Mutational and genotypeβphenotype correl
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Jiong Yan; Gulam Mustafa Saifi; Tomasz H. Wierzba; Marjorie Withers; Gabriel A.
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Article
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2006
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John Wiley and Sons
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English
β 406 KB
π 2 views
## 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