Condition: HERMANSKY-PUDLAK SYNDROME 6
rs281865108 in
HPS6 gene and
HERMANSKY-PUDLAK SYNDROME 6
PMID 19843503 2009 Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
PMID 12548288 2003 Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
PMID 17041891 2006 A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.