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Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

✍ Scribed by Kathryn C. Chatfield; Samantha A. Schrier; Jennifer Li; Dinah Clark; Maninder Kaur; Antonie D. Kline; Matthew A. Deardorff; Laird S. Jackson; Elizabeth Goldmuntz; Ian D. Krantz

Book ID
115549409
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
124 KB
Volume
158A
Category
Article
ISSN
1552-4825

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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