Ontology highlight
ABSTRACT:
SUBMITTER: Bhuiyan ZA
PROVIDER: S-EPMC2564552 | biostudies-literature | 2006 Jul
REPOSITORIES: biostudies-literature
Bhuiyan Z A ZA Klein M M Hammond P P van Haeringen A A Mannens M M A M MM Van Berckelaer-Onnes I I Hennekam R C M RC
Journal of medical genetics 20051019 7
<h4>Background</h4>Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly syndrome characterised by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioural problems, and malformations of the upper extremities. Recently mutations in NIPBL, the human homologue of the Drosophila Nipped-B gene, were found to cause CdLS. Mutations have been found in 39% of reported cases.<h4>Methods</h4>Patients were enrolled in the study and classified in ...[more]