X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

2006: MLFocarelli; CGervasini; LLarizza; DMilani; AMusio; SRusso; ASelicorni; PVezzoni;

Nat Genet.2006;38(5):528-30.

NLM PMID: 16604071

Article 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.

Title and Abstract from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
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Last MEDLINE®/PubMed® update: 1st of December 2015