Ontology highlight
ABSTRACT:
SUBMITTER: Carmona-Rivera C
PROVIDER: S-EPMC3213276 | biostudies-literature | 2011 Dec
REPOSITORIES: biostudies-literature
Carmona-Rivera Carmelo C Golas Gretchen G Hess Richard A RA Cardillo Nicholas D ND Martin Elijah H EH O'Brien Kevin K Tsilou Ekaterini E Gochuico Bernadette R BR White James G JG Huizing Marjan M Gahl William A WA
The Journal of investigative dermatology 20110811 12
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive condition characterized by a bleeding diathesis and hypopigmentation of the skin, hair, and eyes. Some HPS patients develop other complications such as granulomatous colitis and/or fatal pulmonary fibrosis. Eight genes have been associated with this condition, resulting in subtypes HPS-1 through HPS-8. The HPS gene products are involved in the biogenesis of specialized lysosome-related organelles such as melanosomes and platelet delta gra ...[more]