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1.
Medicine (Baltimore) ; 98(43): e17616, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31651874

RESUMO

RATIONALE: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutations in GPC3 or in both GPC3 and GPC4. Physical manifestations of SGBS1 include fetal overgrowth and macrostomia, macroglossia. Subclinical hypothyroidism has never been reported in SGBS1 cases. PATIENT CONCERNS: An 8-days-old boy was referred to our hospital with persistent hypoglycemia and special facies. And the infant showed elevated levels of thyroid-stimulating hormone (TSH). Free T4 and free T3 were normal. DIAGNOSES: Definitive diagnosis of SGBS1 depends on clinical features and genetic testing. A nonsense mutation (c.1515C > A, p. Cys505*) was tested by whole-exome sequencing. INTERVENTIONS: Normal blood glucose levels were maintained with glucose infusions. Levothyroxine was given to the patient for treating subclinical hypothyroidism. OUTCOMES: The parents decided to abandon the treatment of the patient. We learned that the patient died of a lung infection by a telephone follow-up. LESSONS: Subclinical hypothyroidism could be added to the known clinical manifestations of SGBS1.


Assuntos
Arritmias Cardíacas/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Gigantismo/diagnóstico , Cardiopatias Congênitas/diagnóstico , Hipotireoidismo/diagnóstico , Deficiência Intelectual/diagnóstico , China , Diagnóstico Diferencial , Evolução Fatal , Humanos , Recém-Nascido , Masculino
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(9): 897-900, 2019 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-31515785

RESUMO

OBJECTIVE: To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus. METHODS: Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters. RESULTS: The fetus was found to harbor a c.1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida. CONCLUSION: Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.


Assuntos
Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Hidrocefalia/genética , Molécula L1 de Adesão de Célula Nervosa/genética , Análise Mutacional de DNA , Feminino , Feto , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Hidrocefalia/diagnóstico , Masculino , Mutação , Linhagem , Gravidez
4.
J Genet ; 982019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30945684

RESUMO

Microduplications of the X chromosome are a rare cause of X-linked intellectual disability (XLID), a clinically and genetically heterogeneous spectrum of disorders. In the present study, a 950-kb Xp22.12 microduplication including the RPS6KA3 gene was detected in affected members of a family, including the proband (male), his mother and one maternal uncle. Four female carriers had major depression and one of them also had mild intellectual disability. The present and previous cases with overlapping microduplications suggest that Xp22.12 microduplications can be included in the neuropsychiatric copy number variations.


Assuntos
Cromossomos Humanos X/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Deficiência Intelectual/genética , Proteínas Quinases S6 Ribossômicas 90-kDa/genética , Esquizofrenia/genética , Adulto , Duplicação Cromossômica , Variações do Número de Cópias de DNA , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Humanos , Deficiência Intelectual/diagnóstico , Masculino , Pessoa de Meia-Idade , Linhagem , Esquizofrenia/diagnóstico
6.
Graefes Arch Clin Exp Ophthalmol ; 257(6): 1207-1215, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30982101

RESUMO

PURPOSE: To assess the pupil light response (PLR) to chromatic stimulation in patients with different types of X-linked congenital stationary night blindness (CSNB). METHODS: Eight patients with CSNB due to CACNA1F and NYX mutations were exposed to blue and red light stimuli, and PLR was evaluated using infrared video pupillography. Pupil responses were compared between CSNB patients and healthy subjects (n = 34) at baseline, at maximum of constriction, for post-illumination pupil responses (PIPR) and the slope of redilation using Cohen's d. A subgroup comparison was performed descriptively between CACNA1F and NYX associated CSNB patients using the same parameters. RESULTS: In CSNB, smaller baseline pupil diameters compared to healthy subjects were measured both before blue and red light stimulation (d = 1.44-1.625). The maximum constriction to blue light stimuli was smaller for the CSNB group compared to healthy subjects (d = 1.251) but not for red light stimuli (d = 0.449). Pupil response latencies were prolonged in CSNB for both light stimuli (d = -1.53 for blue and d = -1.011 for red stimulation). No relevant differences were found between the CSNB group and healthy subjects for PIPR (d = 0.01), but the slope of redilation was smaller for CSNB patients (d = 2.12). Paradoxical pupil constriction at light offset was not seen in our patients. CONCLUSION: A reduced redilation and smaller baseline pupil diameters for patients with CSNB indicate a disinhibition of intrinsically photosensitive retinal ganglion cells due to affected post-photoreceptor transduction via bipolar cells and can explain the pupillary behavior in our patient group.


Assuntos
Adaptação à Escuridão/fisiologia , Técnicas de Diagnóstico Oftalmológico , Oftalmopatias Hereditárias/fisiopatologia , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Miopia/fisiopatologia , Cegueira Noturna/fisiopatologia , Pupila/fisiologia , Reflexo Pupilar/fisiologia , Células Ganglionares da Retina/fisiologia , Oftalmopatias Hereditárias/diagnóstico , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Miopia/diagnóstico , Cegueira Noturna/diagnóstico , Estimulação Luminosa , Opsinas de Bastonetes/metabolismo
8.
Jpn J Ophthalmol ; 63(2): 172-180, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30604114

RESUMO

PURPOSE: To report the findings in 3 cases of bilateral negative electroretinograms (ERGs) with acute onset of photophobia. STUDY DESIGN: Retrospective case series. METHODS: The medical charts of the 3 patients were reviewed. RESULTS: A 43-year-old woman, a 68-year-old woman, and a 41-year-old woman were referred to Nagoya University Hospital. Their main symptom was bilateral acute photophobia. None of the patients had any systemic diseases or specific medical history. The decimal best-corrected visual acuity (> 0.8) and Humphrey visual fields (mean deviation > -3 dB) were relatively well preserved in all 3 patients. The optical coherence tomography (OCT) and fundus autofluorescence findings were essentially normal. Fluorescein angiography showed mild leakage in 1 patient but no abnormality in the other 2 patients. However, the ERGs of the 3 patients had the features of abnormal ERGs found in patients with incomplete congenital stationary night blindness (CSNB). Exome analyses found no pathogenic variants related to known CSNB-related genes. The symptoms and ERGs of the 3 patients have not progressed or recovered after a relatively long follow-up period. CONCLUSION: The ERG characteristics of 3 patients with bilateral photophobia were similar to those of incomplete CSNB, suggesting post-phototransductional abnormalities. The symptoms and genetic analyses indicated the possibility of an acquired condition rather than a hereditary retinal disease.


Assuntos
Oftalmopatias Hereditárias/complicações , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Miopia/complicações , Cegueira Noturna/complicações , Fotofobia/diagnóstico , Acuidade Visual , Doença Aguda , Adulto , Idoso , Diagnóstico Diferencial , Eletrorretinografia/métodos , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/fisiopatologia , Feminino , Angiofluoresceinografia , Seguimentos , Fundo de Olho , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia , Humanos , Miopia/diagnóstico , Miopia/fisiopatologia , Cegueira Noturna/diagnóstico , Cegueira Noturna/fisiopatologia , Fotofobia/etiologia , Estudos Retrospectivos , Tomografia de Coerência Óptica
9.
Invest Ophthalmol Vis Sci ; 60(1): 93-97, 2019 01 02.
Artigo em Inglês | MEDLINE | ID: mdl-30640974

RESUMO

Purpose: Germline and somatic mutations in CTNNB1 have been found in different types of human diseases. This follow-up study aimed to identify causative germline mutations in CTNNB1 and their associated ocular phenotypes through a comparative analysis of whole-exome sequencing data. Methods: Annotated sequence variations in CTNNB1 were selected from in-house data from whole-exome sequencing of genomic DNA prepared from leucocytes of 3280 unrelated probands with different forms of eye diseases. Potentially pathogenic variants in CTNNB1 were analyzed by multistep bioinformatics analyses. Clinical data from probands with pathogenic variants in CTNNB1 were collected, and potential genotype-phenotype correlations were analyzed. Results: Eleven rare variants that potentially affect the coding regions of CTNNB1 were detected in 11 of the 3280 samples, and four variants were considered to be potentially pathogenic. All four mutations, namely, c.999delC (p.Tyr333*), c.1104delT (p.His369Thrfs*2), c.1738_1742delinsACA (p.Leu580Thrfs*28), and c.1867C>T (p.Gln623*), were heterozygotes and considered to have a germline origin. Three of the four mutations are de novo mutations, and the status of the remaining mutation is unavailable. All four probands had the same class of closely related ocular diseases: one proband had FEVR, and three probands had Norrie-like retinopathy. The molecular results indicated that three probands showed systemic anomalies, as demonstrated by a follow-up survey, but relevant information for the remaining proband was unavailable. Conclusions: The data suggest that germline truncating mutations in CTNNB1 cause autosomal dominant syndromic FEVR or Norrie disease. Patients with mutations in CTNNB1, KIF11, or NDP may have similar or overlapping phenotypes, but this phenomenon needs to be studied further.


Assuntos
Cegueira/congênito , Oftalmopatias Hereditárias/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Mutação em Linhagem Germinativa , Doenças do Sistema Nervoso/genética , Degeneração Retiniana/genética , Doenças Retinianas/genética , Espasmos Infantis/genética , beta Catenina/genética , Cegueira/diagnóstico , Cegueira/genética , Análise Mutacional de DNA , Oftalmopatias Hereditárias/diagnóstico , Feminino , Angiofluoresceinografia , Seguimentos , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Humanos , Lactente , Masculino , Doenças do Sistema Nervoso/diagnóstico , Fenótipo , Degeneração Retiniana/diagnóstico , Doenças Retinianas/diagnóstico , Espasmos Infantis/diagnóstico , Sequenciamento Completo do Genoma
11.
Front Immunol ; 9: 2756, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30564228

RESUMO

Background: Primary immunodeficiency disorders (PIDD) comprise a group of life-threatening congenital diseases characterized by absent or impaired immune responses. Despite the fact that effective, curative treatments are available with optimal clinical outcomes when diagnosed early, newborn screening does not exist for the majority of these diseases due to the lack of detectable, specific biomarkers or validated methods for population-based screening. Peptide immunoaffinity enrichment coupled with selected reaction monitoring mass spectrometry (immuno-SRM) is a sensitive proteomic assay, involving antibody-mediated peptide capture, that allows for concurrent quantification of multiple analytes. This assay has promise for use in potential newborn screening of PIDDs that lead to diminished or absent target proteins in the majority of cases. Objective: To determine and evaluate if a multiplex assay based on immuno-SRM is able to reliably and precisely distinguish affected patients with X-linked agammaglobulinemia (XLA), Wiskott-Aldrich Syndrome (WAS), and CD3ϵ-associated severe combined immunodeficiency (SCID) from one another and from unaffected normal control dried blood spot (DBS) samples. Methods: We performed a blinded, multiplexed analysis of proteolytically-generated peptides from WASp, BTK, and CD3ϵ (for WAS, XLA, and SCID, respectively) in DBS samples from 42 PIDD patients, 40 normal adult controls, and 62 normal newborns. The peptide ATPase copper transporting protein (ATP7B) 1056 was simultaneously monitored for quality assurance purposes. Results: The immuno-SRM assays reliably quantified the target peptides in DBS and accurately distinguished affected patients from normal controls. Analysis of signature peptides found statistically significant reduction or absence of peptide levels in affected patients compared to control groups in each case (WASp and BTK: p = 0.0001, SCID: p = 0.05). Intra and inter-assay precision ranged from 11 to 22% and 11 to 43% respectively; linearity (1.39-2000 fmol peptide), and stability (≤ 0.09% difference in 72 h) showed high precision for the multiplexed assay. Inter-laboratory assay comparison showed high concordance for measured peptide concentrations, with R2 linearity ≥ 0.97 for the WASp 274, CD3ϵ 197, BTK 407, and ATP7B 1056 peptides. Conclusion: Immuno-SRM-based quantification of proteotypic peptides from WASp, BTK, and CD3ϵ in DBS distinguishes relevant PIDD cases from one another and from controls, raising the possibility of employing this approach for large-scale multiplexed newborn screening of selective PIDDs.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/metabolismo , Agamaglobulinemia/diagnóstico , Agamaglobulinemia/metabolismo , Anticorpos/metabolismo , Bioensaio/métodos , Biomarcadores/metabolismo , Cromatografia Líquida/métodos , Estudos de Coortes , ATPases Transportadoras de Cobre/metabolismo , Teste em Amostras de Sangue Seco/métodos , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/metabolismo , Humanos , Recém-Nascido , Espectrometria de Massas/métodos , Triagem Neonatal/métodos , Peptídeos/metabolismo , Proteômica/métodos
12.
Medicine (Baltimore) ; 97(50): e13609, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30558037

RESUMO

RATIONALE: Heparin-induced thrombocytopenia (HIT) is a common antibody-mediated adverse reaction that occurs after heparin exposure. However, few case reports exist regarding nonantibody-mediated HIT. PATIENT CONCERNS AND DIAGNOSES: An 81-year-old female diagnosed with rapidly progressive glomerulonephritis (RPGN) presented with atypical presentation of non antibody-meditated HIT after using heparin during hemodialysis. INTERVENTIONS AND OUTCOMES: Patient was initiated on hemodialysis and presented with thrombocytopenia following administration of heparin during dialysis. After ruling out all other causes of thrombocytopenia, HIT was suspected to be the cause. Patient's 4Ts score was 6 points, and Naranjo adverse drug reaction probability scale was a score of 10. However, enzyme-linked immunoassay for platelet factor 4 (PF4)/heparin antibodies was negative, indicating non-antibody mediated HIT. Patient eventually continued hemodialysis without heparin. LESSONS: This patient case presented a rare presentation of HIT type I reaction due to heparin and demonstrated the importance of timely recognition of thrombocytopenia, appropriate diagnosis and management, and possible existence of a new atypical or subtype of HIT reaction.


Assuntos
Doenças Genéticas Ligadas ao Cromossomo X/etiologia , Glomerulonefrite/complicações , Heparina/efeitos adversos , Trombocitopenia/etiologia , Idoso de 80 Anos ou mais , Anticoagulantes/efeitos adversos , Anticoagulantes/uso terapêutico , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/complicações , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Glomerulonefrite/terapia , Heparina/uso terapêutico , Humanos , Diálise Renal/métodos , Trombocitopenia/diagnóstico
13.
Biomed Res Int ; 2018: 4032543, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30581852

RESUMO

Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliary diseases. To date, 34 subtypes of JBTS have been classified due to different causative genes or extra clinical features. Most of them are autosomal recessive, while only the subtype 10 (JBTS10) is a quite rare X-linked recessive disorder caused by OFD1 mutations with few reports. In this study, by using whole exome sequencing (WES), a novel OFD1 splicing mutation (c.2488+2T>C) was identified in a male fetus with suspected Dandy-Walker variant (DWV) and syndactyly, for whom abnormal karyotype and pathogenic CNV have been excluded. This mutation was inherited from the mother who has experienced two similar pregnancies before. An abnormal skipping of exon 18 in OFD1 mRNA was confirmed by RT-PCR and sequencing. Result from quantitative RT-PCR also showed that total OFD1 mRNA in the index fetus was significantly lower than the control. After a combined analysis of genetic testing results and genotype-phenotype correlations, the novel mutation c.2488+2T>C in OFD1 was considered to be the genetic cause for the affected fetus. Thus the diagnosis should be JBTS10 rather than the primary clinical diagnosis of DWV. We report the first prenatal case of JBTS10 in Chinese population, which not only helps the family to predict recurrence risks for future pregnancies but also provides more information for understanding such a rare disease. The results also present evidence that WES is an effective method in prenatal diagnosis for those fetuses with Joubert syndrome.


Assuntos
Doenças Cerebelares/diagnóstico , Doenças Cerebelares/genética , Síndrome de Dandy-Walker/genética , Feto/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/genética , Mutação/genética , Proteínas/genética , Processamento de RNA/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Exoma/genética , Éxons/genética , Feminino , Estudos de Associação Genética/métodos , Humanos , Masculino , Linhagem , Gravidez , Diagnóstico Pré-Natal/métodos , Sequenciamento Completo do Exoma/métodos
14.
Artigo em Inglês | MEDLINE | ID: mdl-30559311

RESUMO

X-linked agammaglobulinemia (XLA, OMIM#300300) is a rare monogenic primary immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. XLA is characterized by insufficient immunoglobulin levels and susceptibility to life-threatening bacterial infections. We report on a patient that presented with ecthyma gangrenosum and septicemia. Rapid trio whole-genome sequencing (rWGS) revealed an apparently de novo hemizygous pathogenic variant (c.726dupT; p.Ile243TyrfsTer15) in the BTK gene. Metagenomic analysis of rWGS sequences that did not align to the human genome revealed 770 aligned to the Pseudomonas aeruginosa PAO1 genome. The patient was diagnosed with XLA and pseudomonal sepsis.


Assuntos
Tirosina Quinase da Agamaglobulinemia/genética , Agamaglobulinemia/genética , Ectima/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Tirosina Quinase da Agamaglobulinemia/metabolismo , Agamaglobulinemia/diagnóstico , Bacteriemia , Ectima/diagnóstico , Gangrena/microbiologia , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Humanos , Síndromes de Imunodeficiência , Lactente , Masculino , Infecções por Pseudomonas/genética , Pseudomonas aeruginosa/genética , Pseudomonas aeruginosa/patogenicidade , Sepse/genética , Sepse/metabolismo , Pele/microbiologia , Sequenciamento Completo do Genoma/métodos
15.
Pediatr Dermatol ; 35(6): e353-e356, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30168171

RESUMO

Terminal osseous dysplasia is a rare, X-linked syndrome, presumptively embryonic lethal in males, which has recently been described with highly characteristic skin findings. The presence of intracytoplasmic inclusion bodies in fibroblasts has been considered an exclusive finding of infantile digital fibromatosis. This is the first report documenting digital fibromas with intracytoplasmic inclusion bodies in a classic case of terminal osseous dysplasia.


Assuntos
Fibroma/patologia , Dedos/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico , Osteocondrodisplasias/diagnóstico , Transtornos da Pigmentação/diagnóstico , Dedos do Pé/anormalidades , Pré-Escolar , Feminino , Pé/patologia , Mãos/patologia , Humanos , Corpos de Inclusão/patologia , Pele/patologia
19.
Mol Vis ; 24: 326-339, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29769798

RESUMO

Purpose: The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of the inherited retinal dystrophies, which constitute a highly heterogeneous group of disorders characterized by progressive dysfunction of photoreceptors and retinal pigment epithelium (RPE) cells. Methods: The study group was composed of four groups of patients representing different Mendelian inheritance of the disease: autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XL), and autosomal recessive or X-linked recessive (AR/XL). The combined molecular strategy included Sanger sequencing of the RPGR-ORF15 gene (three families with XL and three families with the AR/XL mode of inheritance), mutation-specific microarray analysis of the ABCA4 gene (five families with the AR mode of inheritance and two families with the AR/XL mode of inheritance), targeted next-generation sequencing (NGS) of inherited retinal disease-associated (IRD) genes (seven families with the AD mode of inheritance and five families with the AR mode of inheritance), and whole exome sequencing, performed in select families who had been mutation-negative in the analysis with the targeted NGS panel (one family with the AD mode of inheritance, one family with the AR mode of inheritance, and two families with the AR/XL mode of inheritance). Results: Based on this combined strategy, we managed to identify potentially causative variants in seven out of 18 families with CRD. Five of these variants are novel: c.3142_3143dupAA, p.(Glu1049Argfs*41) in the RPGR-ORF15 gene, two variants: c.1612delT, p.(Trp538Glyfs*15) and c.2389dupG, p.(Ile798Hisfs*20) in the PROM1 gene in one family, c.592A>C, p.(Ser198Arg) in the PRPH2 gene and the variant c.1691A>G, p.(Asp564Gly) in the ATF6 gene that we have already reported to be pathogenic. NGS on the IRD panel allowed the molecular basis of CRD to be identified in four out of 14 families with a total detection rate of 38%. WES allowed identification of the molecular genetic basis of CRD in one family. Conclusions: This is the first report on the spectrum of disease genes and pathogenic variants causing CRD in the Polish population. The study presents five novel variants identified in four genes and therefore, broadens the spectrum of probable pathogenic variants associated with CRD.


Assuntos
Antígeno AC133/genética , Transportadores de Cassetes de Ligação de ATP/genética , Fator 6 Ativador da Transcrição/genética , Transtornos Cromossômicos/genética , Distrofias de Cones e Bastonetes/genética , Proteínas do Olho/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Periferinas/genética , Adolescente , Adulto , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/patologia , Estudos de Coortes , Distrofias de Cones e Bastonetes/diagnóstico , Distrofias de Cones e Bastonetes/patologia , Feminino , Expressão Gênica , Genes Dominantes , Genes Recessivos , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Polônia , Polimorfismo Genético , Epitélio Pigmentado da Retina/metabolismo , Epitélio Pigmentado da Retina/patologia , Análise de Sequência de DNA
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