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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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| Publicado no: | Intractable Rare Dis Res |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2017
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| 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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