Article
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
Journal of human genetics - 1 Jan 2006
Koolen David A, Herbergs Jos, Veltman Joris A, Pfundt Rolph, van Bokhoven Hans, Stroink Hans, Sistermans Erik A, Brunner Han G, Geurts van Kessel Ad, de Vries Bert B A
Abstract excerpt
Holoprosencephaly (HPE) is the most common developmental defect affecting the forebrain and midface in humans. The aetiology of HPE is highly heterogeneous and includes both environmental and genetic factors. Here we report on a boy with mild mental retardation, lobar HPE, epilepsy, mild pyramidal syndrome of the legs, ventricular septal defect, vesicoureteral reflux, preaxial polydactyly, and facial...
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