Your browser doesn't support javascript.
loading
A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome.
Nieto-Benito, Lula Maria; Suárez-Fernández, Ricardo; Campos-Domínguez, Minia.
Afiliação
  • Nieto-Benito LM; Department of Dermatology and Venereology, Hospital General Universitario Gregorio Marañón, Universidad Complutense de Madrid, 46 Doctor Esquerdo St, 28007, Madrid, Spain. lula.m.nieto@gmail.com.
  • Suárez-Fernández R; Department of Dermatology and Venereology, Hospital General Universitario Gregorio Marañón, Universidad Complutense de Madrid, 46 Doctor Esquerdo St, 28007, Madrid, Spain.
  • Campos-Domínguez M; Department of Dermatology and Venereology, Hospital General Universitario Gregorio Marañón, Universidad Complutense de Madrid, 46 Doctor Esquerdo St, 28007, Madrid, Spain.
Mol Biol Rep ; 50(6): 5519-5521, 2023 Jun.
Article em En | MEDLINE | ID: mdl-37133614
BACKGROUND: Adams-Oliver syndrome (AOS) (#614,219) is a multiple malformation disorder characterized by the presence of aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). METHODS AND RESULTS: We describe a confirmed case of AOS with a novel pathogenic variation in Dedicator Of Cytokinesis 6 (DOCK6) gene, with neurological abnormalities, characterized by the presence of a multiple malformation entity with extensive cardiological and neurological abnormalities. CONCLUSIONS: In AOS, genotype-phenotype correlations have been described. DOCK6 mutations appear to be related with congenital cardiac and central nervous system malformations associated with intellectual disability, as illustrated in the present case.
Assuntos
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans Idioma: En Revista: Mol Biol Rep Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans Idioma: En Revista: Mol Biol Rep Ano de publicação: 2023 Tipo de documento: Article