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

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.



Abstract

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 birthmarks defines a subtype of phakomatosis pigmentovascularis, a group of syndromes associated with ...

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