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

Author:

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 PierreORCID,Patton E. Elizabeth,Kinsler Veronica A.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference34 articles.

1. Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: “phacomatosis achromico-melano-marmorata”;Boente Mdel;Eur J Dermatol,2008

2. Klippel-Trenaunay and Sturge-Weber overlap syndrome with phakomatosis pigmentovascularis;Chhajed;J Pediatr Neurosci,2010

3. The Mongolian spot: a study of ethnic differences and a literature review;Cordova;Clin Pediatr (Phila),1981

4. Paradominant inheritance of twin spotting: phacomatosis pigmentovascularis as a further possible example;Danarti;Eur J Dermatol,2003

5. Exome Aggregation Consortium. http://exac.broadinstitute.org. 2015 (accessed June 2015).

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