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

doi:10.1016/j.jid.2015.11.027

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Article

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

The Journal of investigative dermatology - 1 Apr 2016

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 excerpt

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 neurovascular,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26778290
DOI: 10.1016/j.jid.2015.11.027
PMCID: PMC4803466

Genes

GNA11
GNAQ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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