Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

Abstract

Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphism, growth and mental retardation, microcephaly, and various malformations. Heterozygous mutations in the NIPBL gene have been detected in approximately 45% of affected individuals. Recently, a second CdLS gene, mapping to the X chromosome, has been… (More)

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Cite this paper

@article{Borck2007IncidenceAC, title={Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.}, author={Guntram Borck and Mohamed Zarhrate and Jean-Paul Bonnefont and Arnold Munnich and Val{\'e}rie Cormier-Daire and Laurence Colleaux}, journal={Human mutation}, year={2007}, volume={28 2}, pages={205-6} }