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Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome

✍ Scribed by Marchisio, Paola; Selicorni, Angelo; Bianchini, Sonia; Milani, Donatella; Baggi, Elena; Cerutti, Marta; Larizza, Lidia; Principi, Nicola; Esposito, Susanna


Book ID
122485945
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
214 KB
Volume
78
Category
Article
ISSN
0165-5876

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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