Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The el...

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Detalles Bibliográficos
Autores principales: Mishra, Kirtisudha, Singla, Shilpy, Sharma, Suvasini, Saxena, Renu, Batra, Vineeta Vijay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965801/
https://www.ncbi.nlm.nih.gov/pubmed/24678334
http://dx.doi.org/10.3345/kjp.2014.57.2.91

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965801/
https://www.ncbi.nlm.nih.gov/pubmed/24678334
http://dx.doi.org/10.3345/kjp.2014.57.2.91

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