A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

Santos-Rebouças, Cíntia B; Boy, Raquel; Fernandes, Gabriela N S; Gonçalves, Andressa P; Abdala, Bianca B; Gonzalez, Lucas G C; Dos Santos, Jussara M; Pimentel, Márcia M G

Santos-Rebouças, Cíntia B; Boy, Raquel; Fernandes, Gabriela N S; Gonçalves, Andressa P; Abdala, Bianca B; Gonzalez, Lucas G C; Dos Santos, Jussara M; Pimentel, Márcia M G.

Afiliação

Santos-Rebouças CB; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil. Electronic address: cbs@uerj.br.
Boy R; Pedro Ernesto University Hospital, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
Fernandes GNS; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
Gonçalves AP; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
Abdala BB; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
Gonzalez LGC; Pedro Ernesto University Hospital, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
Dos Santos JM; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.
Pimentel MMG; Department of Genetics, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Rio de Janeiro, Brazil.

Eur J Med Genet ; 66(4): 104716, 2023 Apr.

Article em En | MEDLINE | ID: mdl-36731745

Assuntos

Deficiência Intelectual; Masculino; Humanos; Feminino; Deficiência Intelectual/genética; Cromossomos Humanos X; Fenótipo; Genes Ligados ao Cromossomo X; Ubiquitina-Proteína Ligases/genética; Proteínas Supressoras de Tumor/genética

Palavras-chave

HUWE1; Intellectual disability; X-chromosome inactivation; X-chromosome intellectual disability; Xp11.22 duplication

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência Intelectual Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google