Cornelia de Lange syndrome (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and mental retardation, microcephaly, and various malformations. Mutations in the NIPBL gene have been identified in approximately 40% of reporte
Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes
β Scribed by M. Smith; S. Herrell; M. Lusher; L. Lako; C. Simpson; A. Wiestner; R. Skoda; M. Ireland; T. Strachan
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 757 KB
- Volume
- 105
- Category
- Article
- ISSN
- 0340-6717
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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