X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations - PubMed (original) (raw)

doi: 10.1038/ng1779. Epub 2006 Apr 9.

Affiliations

• PMID: 16604071
• DOI: 10.1038/ng1779

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

Antonio Musio et al. Nat Genet. 2006 May.

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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