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Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

โœ Scribed by Noriko Miyake; Remco Visser; Akira Kinoshita; Ko-ichiro Yoshiura; Norio Niikawa; Tatsuro Kondoh; Naomichi Matsumoto; Naoki Harada; Nobuhiko Okamoto; Tohru Sonoda; Kenji Naritomi; Tadashi Kaname; Yasutsugu Chinen; Hidefumi Tonoki; Kenji Kurosawa

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
46 KB
Volume
135A
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

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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