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1.
Dermatol Online J ; 26(2)2020 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-32239901

RESUMO

Aplasia cutis congenita (ACC) is a congenital disorder characterized by localized or generalized absence of skin. Bullous aplasia cutis congenita (BACC) is a rare clinical subtype that has few documented reports in the literature. Herein, we present a new case of BACC in which the bulla was unruptured at birth.


Assuntos
Displasia Ectodérmica/patologia , Dermatoses do Couro Cabeludo/patologia , Couro Cabeludo/patologia , Feminino , Humanos , Recém-Nascido , Doenças Raras
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(5): 567-569, 2020 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-32335888

RESUMO

OBJECTIVE: To explore the genotype-phenotype correlation of Cardio-facio-cutaneous syndrome (CFCS) caused by MAP2K1 gene variants. METHODS: Genomic DNA was extracted from peripheral blood sample from a child patient and his parents. Whole exome sequencing (WES) was carried out for the patient. Suspected variant was verified by Sanger sequencing. RESULTS: The patient was a 1-year-8-month old Chinese male who manifested short stature, psychomotor retardation, relative macrocephaly, distinctive facial features, and congenital heart disease. WES test revealed a heterozygous missense c.389A>G (p.Tyr130Cys) variant in the MAP2K1 gene. Sanger sequencing has confirmed the variant as de novo. According to ACMG/AMP guidelines, the variant was classified as pathogenic. CONCLUSION: Compared with previously reported CFCS cases due to MAP2K1 variants. The patient showed obvious behavioral problems, good appetite and tricuspid regurgitation, which may to be novel features for CFCS.


Assuntos
Displasia Ectodérmica , Facies , Insuficiência de Crescimento , Variação Genética , Cardiopatias Congênitas , MAP Quinase Quinase 1 , China , Displasia Ectodérmica/genética , Insuficiência de Crescimento/genética , Estudos de Associação Genética , Cardiopatias Congênitas/genética , Heterozigoto , Humanos , Lactente , MAP Quinase Quinase 1/genética , Masculino , Mutação , Sequenciamento Completo do Exoma
3.
DNA Cell Biol ; 39(5): 783-789, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32129674

RESUMO

Adams-Oliver syndrome (AOS) is a rare hereditary disorder characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects. The etiology of AOS has remained largely unknown, although mutations in the notch receptor 1 (NOTCH1) gene are most common genetic alteration associated with this disease. In this study, we aimed to identify the case of a 6-year-old boy, who presented with large ACC of the scalp and aortic valve stenosis, suggesting the possibility of AOS. Whole-exome sequencing identified a novel, de novo, in-frame deletion in the NOTCH1 gene (NOTCH1 c.1292_1294del, p.Asn431del) in the patient. The p.Asn431del variant was evaluated by several in silico analyses, which predicted that the mutant was likely to be pathogenic. In addition, molecular modeling with the PyMOL Molecular Graphics System suggested that the NOTCH1-N431del destabilizes calcium ion chelation, leading to decreased receptor-ligand binding efficiency. Quantitative reverse transcription PCR showed further significant downregulation of the Notch target genes, hes-related family bHLH transcription factor with YRPW motif 1 (HEY1) and hes family bHLH transcription factor 1 (HES1), suggesting that this mutation causes disease through dysregulation of the Notch signaling pathway. Our study provides evidence that the NOTCH1-N431del mutation is responsible for this case of AOS. To our knowledge, this is the first report of a patient with AOS caused by NOTCH1 mutation in Asia, and this information will be useful for providing the family with genetic counseling that can help to guide their future plans.


Assuntos
Displasia Ectodérmica/genética , Mutação da Fase de Leitura , Deformidades Congênitas dos Membros/genética , Receptor Notch1/genética , Dermatoses do Couro Cabeludo/congênito , Sequência de Aminoácidos , Animais , Sequência de Bases , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Criança , China , Humanos , Masculino , Modelos Moleculares , Conformação Proteica , Receptor Notch1/química , Proteínas Repressoras/genética , Dermatoses do Couro Cabeludo/genética , Fatores de Transcrição HES-1/genética
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 139-141, 2020 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-32034739

RESUMO

OBJECTIVE: To detect potential variant in a male fetus suspected for Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC) syndrome. METHODS: Peripheral blood samples of the fetus and his parents were collected for the extraction of DNA. Whole-exome sequencing was carried out to detect potential variants. Suspected variants were verified by Sanger sequencing. RESULTS: The fetus was found to carry a heterozygous c.673C>T missense variant of the Tp63 gene, which was known to underlie split-hand/split-foot malformation. The same variant was not found in either parents. CONCLUSION: The heterozygous c.673C>T missense variant of the Tp63 gene probably underlies the EEC syndrome in the fetus. Above finding also expanded the phenotypic spectrum for this variant.


Assuntos
Fenda Labial , Fissura Palatina , Displasia Ectodérmica , Fatores de Transcrição/genética , Proteínas Supressoras de Tumor/genética , Fenda Labial/genética , Fissura Palatina/genética , Displasia Ectodérmica/genética , Humanos , Deformidades Congênitas dos Membros , Masculino , Sequenciamento Completo do Exoma
5.
Gene ; 733: 144369, 2020 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-31972311

RESUMO

MAP2K1 encodes mitogen-activated protein kinase 1 (MEK1). Mutations in MAP2K1 lead to continuous activation of MEK/ERK signaling pathway, giving rise to cardio-facio-cutaneous syndrome (CFCS). However, the molecular mechanisms of abnormal activation of MEK/ERK signaling pathway and the role of autophagy, if any, in manifesting CFCS in MAP2K mutants remain unclear. Here, we report three Chinese children with CFCS having MAP2K1 pathogenic variants, identified by exome sequencing. They presented with dysmorphic facial features, seizures, psychomotor retardation, and short stature. Additionally, the third child showed pulmonary valve stenosis, multiple skeletal deformities, and osteoporosis. Whole exome sequencing revealed two heterozygous missense mutations in exon 3 of MAP2K1 (c.383G>T; p.Gly128Val and c.389A>G; p.Tyr130Cys), as well as a novel heterozygous missense variant (c.170A>T; p.Lys57Met) in exon 2 of MAP2K1. In SH-SY5Y cells, we identified, for the first time, that MAP2K1 mutations can activate the p-ERK-dependent cell cycle progression and autophagy, and cause CFCS. Our results extended the mutational spectrum of MAP2K1, examined the role of MEK1 protein in nerve cell functions, and demonstrated, for the first time, that autophagy may mediate the altered MAP2K1 function, leading to CFCS phenotypes.


Assuntos
Autofagia , Displasia Ectodérmica/patologia , Insuficiência de Crescimento/patologia , Cardiopatias Congênitas/patologia , MAP Quinase Quinase 1/genética , Mutação , Adulto , Apoptose , Ciclo Celular , Movimento Celular , Proliferação de Células , Criança , Displasia Ectodérmica/genética , Displasia Ectodérmica/metabolismo , Facies , Insuficiência de Crescimento/genética , Insuficiência de Crescimento/metabolismo , Feminino , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/metabolismo , Humanos , Lactente , Sistema de Sinalização das MAP Quinases , Masculino , Fenótipo , Fosforilação , Células Tumorais Cultivadas
6.
J Prosthet Dent ; 123(5): 655-660, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31753462

RESUMO

This clinical report describes interdisciplinary treatments for a 17-year-old girl with ectodermal dysplasia. The treatment was initiated with orthodontic therapy. After the remaining primary teeth had been extracted, 6 implants were placed in the maxilla with bilateral sinus floor elevations, and 6 implants were placed in the mandible. Immediate restorations were provided. Definitive restorations included screw-retained partial dental prostheses and ceramic crowns.


Assuntos
Implantes Dentários , Displasia Ectodérmica , Levantamento do Assoalho do Seio Maxilar , Adolescente , Coroas , Planejamento de Prótese Dentária , Prótese Dentária Fixada por Implante , Falha de Restauração Dentária , Feminino , Seguimentos , Humanos , Resultado do Tratamento
8.
Pediatr Ann ; 48(11): e441-e447, 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31710363

RESUMO

Exocrine pancreatic insufficiency in children can lead to lifelong complications related to malnutrition and poor growth. The clinical presentation can be subtle in the early stages of insufficiency as the large functional capacity of the pancreas is gradually lost. The pediatrician plays a crucial role in the early identification of these children to ensure a timely referral so that a diagnosis can be made and therapy initiated. Early nutritional therapy allows for prevention and correction of deficiencies, which leads to improved outcomes and survival. When insufficiency is suspected, the workup should start with an indirect test of exocrine pancreatic function, such as fecal elastase, to establish the diagnosis. Once a diagnosis is established, further testing to delineate the etiology should be pursued, with cystic fibrosis being high on the differential list and assessed for with a sweat test. Assessment of anthropometry at every visit is key, as is monitoring of laboratory parameters and physical examination findings that are suggestive of malabsorption and malnutrition. The mainstay of management is administration of exogenous pancreatic enzymes to facilitate digestion and absorption. [Pediatr Ann. 2019;48(11):e441-e447.].


Assuntos
Transtornos da Nutrição Infantil/etiologia , Insuficiência Pancreática Exócrina/diagnóstico , Acil-CoA Desidrogenase de Cadeia Longa/deficiência , Anus Imperfurado/complicações , Criança , Transtornos da Nutrição Infantil/diagnóstico , Transtornos da Nutrição Infantil/terapia , Quimotripsina/metabolismo , Síndrome Congênita de Insuficiência da Medula Óssea/complicações , Fibrose Cística/complicações , Gorduras na Dieta/metabolismo , Displasia Ectodérmica/complicações , Terapia de Reposição de Enzimas , Insuficiência Pancreática Exócrina/etiologia , Insuficiência Pancreática Exócrina/terapia , Fezes/enzimologia , Transtornos do Crescimento/complicações , Perda Auditiva Neurossensorial/complicações , Humanos , Hipotireoidismo/complicações , Deficiência Intelectual/complicações , Erros Inatos do Metabolismo Lipídico/complicações , Doenças Mitocondriais/complicações , Doenças Musculares/complicações , Nariz/anormalidades , Avaliação Nutricional , Pâncreas/diagnóstico por imagem , Pâncreas/fisiologia , Pancreatopatias/complicações , Elastase Pancreática/metabolismo , Testes de Função Pancreática , Pancreatite Crônica/complicações , Pancreatite Crônica/etiologia , Síndrome de Shwachman-Diamond/complicações , Esteatorreia/etiologia , Tripsinogênio/sangue
10.
Artigo em Inglês | MEDLINE | ID: mdl-31731639

RESUMO

Ectodermal dysplasia (ED) is a rare genetic disorder occurring as a consequence of gene mutations that code for the ectoderm of the developing embryo and results in numerous disorders of varying severity. The lack of functioning sweat glands in those affected with ED leads to high infant mortality and frequent complaints of hyperthermia. Temperature control of two adolescents affected with ED was assessed by conducting heat and exercise exposures while monitoring insulated auditory canal (Tac) and skin temperatures, sweating rates, and skin blood flow. One participant was able to sweat and regulate his Tac while a second participant could not regulate Tac without a cooling intervention. The heterogeneous nature of ED, and these cases highlight the need for a case-by-case review of temperature control of individuals affected with ED. This will determine cooling strategies that would be of most benefit to the individual.


Assuntos
Regulação da Temperatura Corporal/fisiologia , Displasia Ectodérmica/fisiopatologia , Temperatura Cutânea/fisiologia , Adolescente , Temperatura Baixa , Meato Acústico Externo/fisiopatologia , Feminino , Humanos , Masculino , Pele/irrigação sanguínea , Glândulas Sudoríparas/fisiopatologia , Sudorese/fisiologia
12.
J Hum Genet ; 64(12): 1237-1242, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31591492

RESUMO

VAC14-related disorders include two distinct phenotypes, striatonigral degeneration [MIM# 617054] and Yunis-Varon syndrome. Striatonigral degeneration is a recently described childhood onset dystonia caused by pathogenic variants in VAC14. It is characterized by a period of apparent normalcy followed by abrupt onset neuroregression, dystonia, involuntary movements and degenerative brain lesions involving caudate nucleus, putamen and substantia nigra. Yunis-Varon syndrome is a well described severe condition characterised by skeletal findings and dysmorphism along with neuronal degeneration. Pathogenic variants in FIG4 have been previously reported to cause Yunis-Varon syndrome. Recently, loss of function variants in VAC14 were also reported in an individual affected with Yunis-Varon syndrome. Total seven individuals from four families are reported to have VAC14-related disorders till date. Here, we report another individual with clinical and radiological features suggestive of striatonigral degeneration with homozygous missense variant in VAC14. The patient fibroblasts showed extensive vacuolization, characteristic of VAC14-related disorders. We also review the phenotype and genotype associated with these disorders.


Assuntos
Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas de Membrana/genética , Mutação de Sentido Incorreto/genética , Degeneração Estriatonigral/genética , Displasia Cleidocraniana/genética , Displasia Ectodérmica/genética , Feminino , Genótipo , Homozigoto , Humanos , Lactente , Deformidades Congênitas dos Membros/genética , Micrognatismo/genética , Fenótipo
13.
J Dent Child (Chic) ; 86(3): 158-163, 2019 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-31645258

RESUMO

Hypohidrotic ectodermal dysplasia (HED) is a genetic condition characterized by abnormal development of two or more structures of the ectoderm, such as skin, hair, nails, teeth, or sweat glands. The most common dental anomalies are oligodontia and anodontia but taurodontism has also been described. These patients present a decrease of alveolar bone volume and alveolar ridge tapering due to congenitally missing teeth. The purpose of this report is to describe the case of a six-year-old girl diagnosed with HED who presented with conical teeth, taurodontic molars, and multiple agenesis that decreased the patient's self-esteem and social interactions. The proposed treatment was to accomplish an oral rehabilitation that was functional, provided the patient with the ability for correct mastication, good esthetics, and comfort, using restorations and devices that did not interfere with the child's orofacial growth and development. (J Dent Child 2019;86(3):158-63).


Assuntos
Anodontia , Displasia Ectodérmica Anidrótica Tipo 1 , Displasia Ectodérmica , Anormalidades Dentárias , Criança , Estética Dentária , Feminino , Humanos
14.
J Craniofac Surg ; 30(8): 2493-2496, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31609940

RESUMO

BACKGROUND: When a child is born with Aplasia cutis congenita (ACC), it is important for the surgeon to decide promptly whether to perform early surgical intervention, or proceed with conservative care. Several patients of ACC have been reported in which various treatments have attempted. However, the criteria of treatment remain controversial. In this study, the authors present an algorithm and the literature review to assist with objective decisions during ACC management. METHODS: A total of 4 cases of infants born with ACC were referred to our department between January 2017 and April 2019. Conservative care was to be considered a first choice of management. RESULTS: The ACC lesions were presented in the scalp vertex area in all 4 infants with the intact dura mater. There was no large vein exposure or sagittal sinus exposure in all infants. All 4 infants were managed with conservative care, which immediately resulted in complete healing of the defects without any complications. CONCLUSIONS: Rapid decision-making is required whether or not the patient requires emergency surgical coverage. Even extensive defects may be healed by conservative care alone, if the dura mater is intact and accompanying large vein or sagittal sinus exposure is not identified.


Assuntos
Displasia Ectodérmica/cirurgia , Algoritmos , Dura-Máter/cirurgia , Humanos , Lactente , Recém-Nascido , Couro Cabeludo/cirurgia , Cicatrização
15.
BMC Genomics ; 20(1): 715, 2019 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-31533624

RESUMO

BACKGROUND: In mammals, hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that is characterized by sparse hair, tooth abnormalities, and defects in cutaneous glands. Only four genes, EDA, EDAR, EDARADD and WNT10A account for more than 90% of HED cases, and EDA, on chromosome X, is involved in 50% of the cases. In this study, we explored an isolated case of a female Holstein calf with symptoms similar to HED. RESULTS: Clinical examination confirmed the diagnosis. The affected female showed homogeneous hypotrichosis and oligodontia as previously observed in bovine EDAR homozygous and EDA hemizygous mutants. Under light microscopy, the hair follicles were thinner and located higher in the dermis of the frontal skin in the affected animal than in the control. Moreover, the affected animal showed a five-fold increase in the number of hair follicles and a four-fold decrease in the diameter of the pilary canals. Pedigree analysis revealed that the coefficient of inbreeding of the affected calf (4.58%) was not higher than the average population inbreeding coefficient (4.59%). This animal had ten ancestors in its paternal and maternal lineages. By estimating the number of affected cases that would be expected if any of these common ancestors carried a recessive mutation, we concluded that, if they existed, other cases of HED should have been reported in France, which is not the case. Therefore, we assumed that the causal mutation was dominant and de novo. By analyzing whole-genome sequencing data, we identified a large chromosomal inversion with breakpoints located in the first introns of the EDA and XIST genes. Genotyping by PCR-electrophoresis the case and its parents allowed us to demonstrate the de novo origin of this inversion. Finally, using various sources of information we present a body of evidence that supports the hypothesis that this mutation is responsible for a skewed inactivation of X, and that only the normal X can be inactivated. CONCLUSIONS: In this article, we report a unique case of X-linked HED affected Holstein female calf with an assumed full inactivation of the normal X-chromosome, thus leading to a severe phenotype similar to that of hemizygous males.


Assuntos
Inversão Cromossômica/genética , Cromossomos de Mamíferos/genética , Displasia Ectodérmica/genética , Ectodisplasinas/genética , Heterozigoto , RNA Longo não Codificante/genética , Animais , Bovinos , Feminino , Masculino , Linhagem , Sequenciamento Completo do Genoma
17.
Shanghai Kou Qiang Yi Xue ; 28(3): 268-274, 2019 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-31489414

RESUMO

PURPOSE: To identify the potentially pathogenic mutations in patients with ectodermal dysplasia (ED) and to investigate the pathogenicity of mutations by functional studies. METHODS: Eight Chinese ED patients were included in this study. Peripheral venous blood was taken from the patients and DNA was extracted. Whole-exome sequencing (WES) was performed using DNA samples. After quality control of the sequencing data, the potentially pathogenic mutations were screened. The pathogenicity of the mutations was predicted in silico. Immunofluorescence study and dual luciferase assays were performed to investigate the pathogenicity of the mutations. RESULTS: The effective rates of all sequencing samples were above 97.5% and the error rates were less than 0.03%. The proportions of Q20 were more than 97.0%. The average sequencing depths of the target region were more than 90×. The sequencing data were acceptable for further analysis. After data screening, three missense mutations of EDA were detected, including c.959A>G, c.1073A>G and c.1001G>A. The allele frequency was low in population database for all three mutations and in silico analysis indicated all three mutations were disease-causing. Immunofluorescence analysis showed that p65 protein nuclear translocation was compromised by EDA mutations, dual luciferase assays also showed that the activation of NF-κB pathway was decreased by EDA mutations. CONCLUSIONS: This study identified EDA mutations in Chinese ED patients and further verified the pathogenicity of the mutations by functional studies, contributing to the understanding of the pathogenesis of ED.


Assuntos
Displasia Ectodérmica , Mutação de Sentido Incorreto , Grupo com Ancestrais do Continente Asiático , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Humanos , Mutação , NF-kappa B
18.
Proc Natl Acad Sci U S A ; 116(35): 17361-17370, 2019 08 27.
Artigo em Inglês | MEDLINE | ID: mdl-31413199

RESUMO

Mutations in transcription factor p63 are associated with developmental disorders that manifest defects in stratified epithelia including the epidermis. The underlying cellular and molecular mechanism is however not yet understood. We established an epidermal commitment model using human induced pluripotent stem cells (iPSCs) and characterized differentiation defects of iPSCs derived from ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome patients carrying p63 mutations. Transcriptome analyses revealed stepwise cell fate transitions during epidermal commitment: Specification from multipotent simple epithelium to basal stratified epithelia and ultimately to the mature epidermal fate. Differentiation defects of EEC iPSCs caused by p63 mutations occurred during the specification switch from the simple epithelium to the basal-stratified epithelial fate. Single-cell transcriptome and pseudotime analyses of cell states identified mesodermal activation that was associated with the deviated commitment route of EEC iPSCs. Integrated analyses of differentially regulated genes and p63-dependent dynamic genomic enhancers during epidermal commitment suggest that p63 directly controls epidermal gene activation at the specification switch and has an indirect effect on mesodermal gene repression. Importantly, inhibitors of mesodermal induction enhanced epidermal commitment of EEC iPSCs. Our findings demonstrate that p63 is required for specification of stratified epithelia, and that epidermal commitment defects caused by p63 mutations can be reversed by repressing mesodermal induction. This study provides insights into disease mechanisms underlying stratified epithelial defects caused by p63 mutations and suggests potential therapeutic strategies for the disease.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Displasia Ectodérmica/genética , Epitélio/metabolismo , Fatores de Transcrição/genética , Proteínas Supressoras de Tumor/genética , Epiderme/embriologia , Epiderme/metabolismo , Epitélio/embriologia , Expressão Gênica , Perfilação da Expressão Gênica , Humanos , Imuno-Histoquímica , Células-Tronco Pluripotentes Induzidas/metabolismo , Queratinócitos/metabolismo , Mutação , Análise de Sequência de RNA , Análise de Célula Única , Fatores de Transcrição/metabolismo , Proteínas Supressoras de Tumor/metabolismo
20.
Rev. medica electron ; 41(4): 1035-1041, jul.-ago. 2019.
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1094108

RESUMO

RESUMEN Las displasias ectodérmicas constituyen alteraciones de los derivados embriológicos del ectodermo. Paciente adulta, con hipoparatiroidismo, llamó la atención por su fenotipo y fue remitida de la consulta de Neurología a la consulta Genética. Se diagnosticó una displasia ectodérmica hipohidrótica, de origen genético con herencia autosómica dominante, poco común para esta entidad. Se presenta este caso con el objetivo de describir las manifestaciones clínicas de esta alteración genética, las cuales nunca fueron objeto de interés médico resultando inadvertidas para su estudio y diagnóstico. Esta alteración se asocia a una condición patológica como el hipoparatiroidismo, en la literatura revisada no se encontraron reportes de la misma. La evaluación clínica de la paciente permitió hacer el diagnóstico y explicar muchos de los problemas para los cuales no existían respuestas, así como ofrecer un asesoramiento genético adecuado para ella y para sus familiares con riesgo de padecer una condición genética similar.


ABSTRACT Ectodermic dysplasias are alterations of the ectoderm embryologic derivatives. This is a case of an adult female patient with hypoparathyroidism, drawing attention due to her phenotype; she was remitted by the consultation of Neurology to the Genetic one. She was diagnosed a hypohidrotic ectodermal dysplasia, of genetic origin with autosomal dominant inheritance, what is very rare for this entity. The case is presented with the aim of describing the clinical manifestation of this genetic alteration that never drew medical interest and nobody diagnosed or studied. It is associated to a pathologic condition like hypothyroidism and was not reported in medical literature before. The clinical evaluation of the patient allowed arriving to the diagnostic and explaining many problems that were unexplained, and also offering the adequate genetic advice to her and her relatives likewise at risk of suffering a similar genetic condition.


Assuntos
Humanos , Feminino , Adulto , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/etiologia , Displasia Ectodérmica/genética , Displasia Ectodérmica/tratamento farmacológico , Displasia Ectodérmica/epidemiologia , Aconselhamento Genético , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/etiologia , Qualidade de Vida , Ceratodermia Palmar e Plantar/diagnóstico , Ceratodermia Palmar e Plantar/etiologia
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