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.
|Titolo:||X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations|
LARIZZA, LIDIA (Ultimo)
|Settore Scientifico Disciplinare:||Settore MED/03 - Genetica Medica|
|Data di pubblicazione:||2006|
|Digital Object Identifier (DOI):||10.1038/ng1779|
|Appare nelle tipologie:||01 - Articolo su periodico|