X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
Nat Genet
; 38(5): 528-30, 2006 May.
Article
em En
| MEDLINE
| ID: mdl-16604071
ABSTRACT
Cornelia de Lange syndrome is a multisystem developmental disorder characterized by facial dysmorphisms, upper limb abnormalities, growth delay and cognitive retardation. Mutations in the NIPBL gene, a component of the cohesin complex, account for approximately half of the affected individuals. We report here that mutations in SMC1L1 (also known as SMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one sporadic case.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas Cromossômicas não Histona
/
Proteínas de Ciclo Celular
/
Síndrome de Cornélia de Lange
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Mutação
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article