Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.

@article{Yan2006MutationalAG,
  title={Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.},
  author={Jiong Yan and Gulam Mustafa Saifi and Tomasz H Wierzba and Marjorie Withers and Gabriel A. Bien-Willner and Janusz Limon and Paweł Stankiewicz and James R Lupski and Jolanta Wierzba},
  journal={American journal of medical genetics. Part A},
  year={2006},
  volume={140 14},
  pages={1531-41}
}
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 discovered recently as a major etiology for this syndrome, and were detected in 27-56% of patients. Two groups have found significant differences in the severity or penetrance of some phenotypes between mutation positive… CONTINUE READING
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