Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure.
2021
Griscelli syndrome type 2 (GS2) is caused by mutations of the RAB27A gene and can be complicated by hemophagocytic lymphohistiocytosis (HLH) at a very young age. A 14 year-old girl with prior histo...
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