Hermansky–Pudlak syndrome in two African-American brothers
✍ Scribed by Melissa A. Merideth; Lisa M. Vincent; Susan E. Sparks; Richard A. Hess; Irini Manoli; Kevin J. O'Brien; Ekaterina Tsilou; James G. White; Marjan Huizing; William A. Gahl
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 247 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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The Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive inherited disorder characterized by oculocutaneous albinism, tissue accumulation of ceroid pigment, and a mild to moderate bleeding diathesis attributed to storage-pool deficient (SPD) platlets. Patients have platelet aggregation and rele
W e describe two mentally retarded brothers with craniofacial anomalies, polydactyly, and other clinical manifestations compatible with the acrocallosal syndrome (ACS). These are the first black patients from Africa with this diagnosis. They are also the fourth set of sibs described with ACS, and to
## Abstract 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__,