Article
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.
Journal of medical genetics - 1 Feb 2005
Brouillard P, Ghassibé M, Penington A, Boon L M, Dompmartin A, Temple I K, Cordisco M, Adams D, Piette F, Harper J I, Syed S, Boralevi F, Taïeb A, Danda S, Baselga E, Enjolras O, Mulliken J B, Vikkula M
Abstract excerpt
BACKGROUND: Glomuvenous malformation (GVM) ("familial glomangioma") is a localised cutaneous vascular lesion histologically characterised by abnormal smooth muscle-like "glomus cells" in the walls of distended endothelium lined channels. Inheritable GVM has been linked to chromosome 1p21-22 and is caused by truncating mutations in glomulin. A double hit mutation was identified in one lesion. This finding suggests...
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