Article
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis.
American journal of medical genetics. Part A - 1 Jun 2004
Bachli Esther B, Brack Thomas, Eppler Elisabeth, Stallmach Thomas, Trüeb Ralph M, Huizing Marjan, Gahl William A
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet storage pool deficiency. Some patients also develop fatal pulmonary fibrosis and some have granulomatous colitis. Six human genes HPS1, ADB3A, HPS3, HPS4, HPS5, and HPS6 have been identified as cause of the six known subtypes of HPS. While there exist nearly 500 Puerto Rican and...
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