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Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.

Annals of clinical and laboratory science - 1 Jan 2010

Park Hyung-Doo, Ki Chang-Seok, Kim Jong-Won, Kim Woo Taek, Kim Jin-Kyung

Abstract excerpt

Cornelia de Lange syndrome (CdLS; OMIM #122470) is a multiple congenital anomaly with characteristic facial features, growth delay, mental retardation, limb defects, behavioral problems, ocular and hearing impairments, and gastrointestinal or cardiac abnormalities. Although the NIPBL gene has been identified as a causative gene for CdLS, there has hitherto been no genetically confirmed case of CdLS in Korea....

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Source

Identifiers

PMID: 20124326

Genes

NIPBL

Variants

Provenance

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