your information resource in human molecular genetics
Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, and mutations in seven genes have been reported to cause HPS. Autozygosity mapping studies were undertaken in a large consanguineous family with HPS. Affected individuals displayed features of incomplete oculocutaneous albinism and platelet dysfunction. These findings, reported in the Jan 2006 issue of The American Journal of Human Genetics (Vol. 78, pp. 160-166), define a novel form of human HPS (HPS8) and extend genotype-phenotype correlations in HPS.
Eamonn R. Maher Section of Medical and Molecular Genetics
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