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Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis

✍ Scribed by JE Yu; S-Y Jeong; J-A Yang; MS Park; HJ Kim; SH Yoon

Book ID
110888814
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
527 KB
Volume
76
Category
Article
ISSN
0009-9163

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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