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Spectrum ofNIPBLgene mutations in Polish patients with Cornelia de Lange syndrome

✍ Scribed by Alina Kuzniacka, Jolanta Wierzba, Magdalena Ratajska, Beata S. Lipska, Magdalena Koczkowska, Monika Malinowska, Janusz Limon


Book ID
118303404
Publisher
Springer-Verlag
Year
2012
Tongue
English
Weight
165 KB
Volume
54
Category
Article
ISSN
1234-1983

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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