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Article

Computational analysis for GNAQ mutations: New insights on the molecular etiology of Sturge-Weber syndrome.

Journal of molecular graphics & modelling - 1 Sept 2017

Martins Luciane, Giovani Priscila Alves, Rebouças Pedro Diniz, Brasil Danieli Moura, Haiter Neto Francisco, Coletta Ricardo D, Machado Renato Assis, Puppin-Rontani Regina Maria, Nociti Francisco Humberto, Kantovitz Kamila Rosamilia

Abstract excerpt

Somatic activating mutations in the GNAQ have been recently associated with several congenital genetic disorders and tumors; however, the molecular mechanism/etiology that leads to GNAQ somatic mosaic mutation are unknown. Here, we reported a case of Sturge-Weber Syndrome (SWS) manifesting cutaneous vascular malformations (hemifacial Port-wine stain), cerebral and ocular vascular abnormalities (including epilepsy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28779688
DOI: 10.1016/j.jmgm.2017.07.011

Genes

GNAQ

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