Article
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
Human mutation - 1 Oct 2017
Grandin Virginie, Sepulveda Fernando E, Lambert Nathalie, Al Zahrani Mofareh, Al Idrissi Eman, Al-Mousa Hamoud, Almanjomi Fahd, Al-Ghonaium Abdulaziz, K Habazi Murad, A Alghamdi Hamza, Picard Capucine, Bole-Feysot Christine, Nitschke Patrick, Ménasché Gaël, de Saint Basile Geneviève
Abstract excerpt
Griscelli syndrome type 2 (GS2) is a rare and often fatal autosomal recessive, hyperinflammatory disorder. It is associated with hypopigmentation of the skin and the hair, resulting in the characteristic pigment accumulation and clumping in the hair shaft. Loss-of-function mutations in RAB27A, resulting from point mutations, short indel, or large deletions, account for all the cases reported to date. However,...
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