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Cornelia de Lange syndrome: Extending the physical and psychological phenotype

✍ Scribed by Chris Oliver; Maria Francesca Bedeschi; Natalie Blagowidow; Cheri S. Carrico; Anna Cereda; David R. FitzPatrick; Cristina Gervasini; Gemma M. Griffith; Antonie D. Kline; P. Marchisio; Joanna Moss; Feliciano J. Ramos; Angelo Selicorni; Penny Tunnicliffe; Jolanta Wierzba; Raoul C.M. Hennekam


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
123 KB
Volume
152A
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