Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect

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 chromos...

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Bibliografiske detaljer
Main Authors: Brouillard, P, Ghassibe, M, Penington, A, Boon, L, Dompmartin, A, Temple, I, Cordisco, M, Adams, D, Piette, F, Harper, J, Syed, S, Boralevi, F, Taieb, A, Danda, S, Baselga, E, Enjolras, O, Mulliken, J, Vikkula, M
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2005
Fag:
Online Mutation Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735996/
https://ncbi.nlm.nih.gov/pubmed/15689436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.024174
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