Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous abnormalities. Co-occurrence with vascular birthmark...

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Detalles Bibliográficos
Autores principales: Thomas, Anna C., Zeng, Zhiqiang, Rivière, Jean-Baptiste, O’Shaughnessy, Ryan, Al-Olabi, Lara, St.-Onge, Judith, Atherton, David J., Aubert, Hélène, Bagazgoitia, Lorea, Barbarot, Sébastien, Bourrat, Emmanuelle, Chiaverini, Christine, Chong, W. Kling, Duffourd, Yannis, Glover, Mary, Groesser, Leopold, Hadj-Rabia, Smail, Hamm, Henning, Happle, Rudolf, Mushtaq, Imran, Lacour, Jean-Philippe, Waelchli, Regula, Wobser, Marion, Vabres, Pierre, Patton, E. Elizabeth, Kinsler, Veronica A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803466/
https://www.ncbi.nlm.nih.gov/pubmed/26778290
http://dx.doi.org/10.1016/j.jid.2015.11.027

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