Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Griscelli syndrome (GS) is a rare autosomal recessive disorder that associates hypopigmentation, characterized by a silver-gray sheen of the hair and the presence of large clusters of pigment in the hair shaft, and the occurrence of either a primary neurological impairment or a severe immune disorde...

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Autores principales: Ménasché, Gaël, Ho, Chen Hsuan, Sanal, Ozden, Feldmann, Jérôme, Tezcan, Ilhan, Ersoy, Fügen, Houdusse, Anne, Fischer, Alain, Basile, Geneviève de Saint
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2003
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC166299/
https://ncbi.nlm.nih.gov/pubmed/12897212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200318264
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