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...

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Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2013
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Original Article
Online Zugang: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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