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

• Главные авторы: Kirtisudha Mishra (Автор), Shilpy Singla (Автор), Suvasini Sharma (Автор), Renu Saxena (Автор), Vineeta Vijay Batra (Автор)
• Формат: ‌
• Опубликовано: Korean Pediatric Society, 2014-02-01T00:00:00Z.
• Предметы: article
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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...