Genotypes and Phenotypes of 162 Families with a Glomulin Mutation

A decade ago, we identified a novel gene, glomulin (GLMN) in which mutations cause glomuvenous malformations (GVMs). GVMs are bluish-purple cutaneous vascular lesions with characteristic glomus cells in the walls of distended venous channels. The discovery of the genetic basis for GVMs allowed the d...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Brouillard, P., Boon, L.M., Revencu, N., Berg, J., Dompmartin, A., Dubois, J., Garzon, M., Holden, S., Kangesu, L., Labrèze, C., Lynch, S.A., McKeown, C., Meskauskas, R., Quere, I., Syed, S., Vabres, P., Wassef, M., Mulliken, J.B., Vikkula, M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: S. Karger AG 2013
Pynciau:
Original Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3666456/
https://ncbi.nlm.nih.gov/pubmed/23801931
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000348675
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