Durmaz, AsudeOzkinay, FerdaOnay, HuseyinTombuloglu, MuratAtay, AvniGursel, OrhanOzkinay, Cihangir2025-05-102025-05-1020121077-41141536-367810.1097/MPH.0b013e31826781ad2-s2.0-84866922388https://doi.org/10.1097/MPH.0b013e31826781adhttps://hdl.handle.net/20.500.14720/1581Griscelli syndrome (GS) is a rare autosomal recessive disorder associated with skin or hair hypopigmentation, hepatosplenomegaly, pancytopenia, and immunologic and central nervous system abnormalities. GS type II is caused by RAB27A mutations. We present RAB27A mutation analysis of 6 cases diagnosed as GS type II. Missense mutations (L26P and L130P) in 2 cases, deletion of 5 bases (514delCAAGC) in 2 cases, and 1 base deletion (148delA) in 2 cases were detected. This report has importance in phenotype-genotype correlation of different types of mutations including missense mutations and deletions within the RAB27A gene in GSII syndrome.eninfo:eu-repo/semantics/closedAccessRab27A MutationsGriscelli SyndromePhenotype-Genotype CorrelationArticle347Q4Q354154422983416WOS:000309218400024