Condition: Hypopigmentation-immunodeficiency disease
rs770601673
in
RAB27A
gene and
Hypopigmentation-immunodeficiency disease
PMID 18350256
2008 Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.
PMID 19953648
2010 Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
PMID 16551969
2006 Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.
PMID 26684649
2015 Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
PMID 10835631
2000 Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.