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Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

✍ Scribed by Mannini, Linda; Cucco, Francesco; Quarantotti, Valentina; Krantz, Ian D.; Musio, Antonio


Book ID
121278326
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
759 KB
Volume
34
Category
Article
ISSN
1059-7794

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## Abstract Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by prenatal and postnatal growth retardation, developmental delay, distinctive facial dysmorphism, limb malformations, and multiple organ defects. Mutations in the __NIPBL__ gene have been disco