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Erratum to: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

✍ Scribed by Alina Kuzniacka, Jolanta Wierzba, Magdalena Ratajska…

Book ID: 120722124
Publisher: Springer-Verlag
Year: 2013
Tongue: English
Weight: 47 KB
Volume: 54
Category: Article
ISSN: 1234-1983
DOI: 10.1007/s13353-013-0138-0

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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

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## Abstract Cornelia de Lange syndrome (CdLS) manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes (__NIPBL__, __SMC1A__, and __SMC3__) of the cohesin complex and its regulators have been found in affected patients. Here, we present