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Mutation Analysis in Chinese Patients with Cornelia de Lange Syndrome

✍ Scribed by Zhong, Qiulian; Liang, Desheng; Liu, Jing; Xue, Jinjie; Wu, Lingqian

Book ID
118045374
Publisher
Mary Ann Liebert
Year
2012
Tongue
English
Weight
234 KB
Volume
16
Category
Article
ISSN
1945-0265

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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