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Article

A Novel Frameshift Mutation (c.5387_5388insTT) in NIPBL in Cornelia de Lange Syndrome with Severe Phenotype.

Annals of clinical and laboratory science - 1 Jan 2018

Kang Min Jae, Ahn Soo Min, Hwang Il Tae

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a developmental disorder which is characterized by typical facial features, upper extremity malformations, and growth and cognitive delays. The genes involved in CdLS encode the cohesin complex and its associated proteins; and NIPBL mutations, which account for half of the cases, result in severe CdLS phenotypes. We describe a girl with CdLS, presenting with typical facial...

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Identifiers

PMID: 29531005

Genes

NIPBL

Variants

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