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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
- Source :
- Nature Genetics; May2006, Vol. 38 Issue 5, p528-530, 3p, 5 Color Photographs, 1 Diagram
- Publication Year :
- 2006
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 10614036
- Volume :
- 38
- Issue :
- 5
- Database :
- Complementary Index
- Journal :
- Nature Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 20619940
- Full Text :
- https://doi.org/10.1038/ng1779