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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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
Korean Pediatric Society,
2014-02-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |