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Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature

Griscelli syndrome (GS) is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair with variable phenotypes depending upon subtypes. Mutations in 3 distinct genes MYO5A, RAB27A, MLPH are responsible for 3 subtypes (GS1, GS2, and GS3) of GS respectively. GS subtype 2...

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Detalhes bibliográficos
Publicado no:Intractable Rare Dis Res
Main Authors: Minocha, Priyanka, Choudhary, Richa, Agrawal, Anika, Sitaraman, Sadasivan
Formato: Artigo
Idioma:Inglês
Publicado em: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5359361/
https://ncbi.nlm.nih.gov/pubmed/28357189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2016.01084
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