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.

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations / A. MUSIO, A. SELICORNI, M.L. FOCARELLI, C.C.G. GERVASINI, D. MILANI, S. RUSSO, P. VEZZONI, L. LARIZZA. - In: NATURE GENETICS. - ISSN 1061-4036. - 38:5(2006), pp. 528-530.

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

C.C.G. GERVASINI;L. LARIZZA
Ultimo
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.
Settore MED/03 - Genetica Medica
2006
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/23400
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