Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations (“Glomangiomas”)

Glomuvenous malformations (GVMs) are cutaneous venous lesions characterized by the presence of smooth-muscle–like glomus cells in the media surrounding distended vascular lumens. We have shown that heritable GVMs link to a 4–6-cM region in chromosome 1p21-22. We also identified linkage disequilibriu...

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Main Authors: Brouillard, Pascal, Boon, Laurence M., Mulliken, John B., Enjolras, Odile, Ghassibé, Michella, Warman, Matthew L., Tan, O. T., Olsen, Bjorn R., Vikkula, Miikka
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC379115/
https://ncbi.nlm.nih.gov/pubmed/11845407
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