Hermansky-Pudlak syndrome

*Gene map locus 11p15-p13, 10q24.32, etc.

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Delta storage pool disease

HPS

[Clinical features: oculocutaneous albinism; bleeding diathesis; lysosomal accumulation of ceroid lipofuscin]

[Inheritance: autosomal recessive]

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Hermansky-Pudlak Syndrome: Radiography and CT of the Chest Compared with Pulmonary Function Tests and Genetic Studies	Hermansky-Pudlak Syndrome: Radiography and CT of the Chest Compared with Pulmonary Function Tests and Genetic Studies	Hermansky-Pudlak Syndrome: Radiography and CT of the Chest Compared with Pulmonary Function Tests and Genetic Studies
American Journal of Roentgenology	American Journal of Roentgenology	American Journal of Roentgenology


Hermansky-Pudlak Syndrome: Radiography and CT of the Chest Compared with Pulmonary Function Tests and Genetic Studies	Hermansky-Pudlak Syndrome: Radiography and CT of the Chest Compared with Pulmonary Function Tests and Genetic Studies	Hermansky-Pudlak Syndrome: Radiography and CT of the Chest Compared with Pulmonary Function Tests and Genetic Studies
American Journal of Roentgenology	American Journal of Roentgenology	American Journal of Roentgenology


Hermansky-Pudlak Syndrome: Radiography and CT of the Chest Compared with Pulmonary Function Tests and Genetic Studies	Hermansky-Pudlak Syndrome: Radiography and CT of the Chest Compared with Pulmonary Function Tests and Genetic Studies	Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds
American Journal of Roentgenology	American Journal of Roentgenology	Archives of Disease in Childhood


Hermansky-Pudlak Syndrome	Hermansky-Pudlak Syndrome	P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome
eMedicine	eMedicine	Journal of Medical Genetics


A 25 year old woman presenting with bleeding disorder and nystagmus	Hermansky-Pudlak Syndrome	Hermansky-Pudlak Syndrome
Postgraduate Medical Journal	Radiology	Radiology

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Edited by Aldo Campana, August 21, 2012