Griscelli syndrome type 2: a novel mutation in 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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Bibliographic Details
Main Authors: Kirtisudha Mishra, Shilpy Singla, Suvasini Sharma, Renu Saxena, Vineeta Vijay Batra
Format: Article
Language:English
Published: Korean Pediatric Society 2014-02-01
Series:Korean Journal of Pediatrics
Subjects:
Online Access:http://kjp.or.kr/upload/pdf/kjped-57-91.pdf