Article
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.
American journal of medical genetics - 15 Jun 2001
Krantz I D, Tonkin E, Smith M, Devoto M, Bottani A, Simpson C, Hofreiter M, Abraham V, Jukofsky L, Conti B P, Strachan T, Jackson L
Abstract excerpt
Cornelia de Lange Syndrome (CdLS) is a complex developmental disorder consisting of characteristic facial features, limb abnormalities, hirsutism, ophthalmologic involvement, gastroesophageal dysfunction, hearing loss, as well as growth and neurodevelopmental retardation. Most cases of CdLS appear to be sporadic. Familial cases are rare and indicate autosomal dominant inheritance. Several individuals with CdLS...
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