- Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum
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Mishra K, Singla S, Sharma S, Saxena R, Batra VV
- KMID: 1875968
- Korean J Pediatr.
- 2014 Feb;57(2):91-95.
- doi: 10.3345/kjp.2014.57.2.91
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... -
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