A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy

Trizuljak,  Jakub; Doubková,  Martina; Hrazdirová,  Anna; Vrzalová,  Zuzana; Blaháková,  Ivona; Radová,  Lenka; Pospíšilová,  Šárka; Doubek,  Michael

A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy

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Authors	TRIZULJAK Jakub DOUBKOVÁ Martina HRAZDIROVÁ Anna VRZALOVÁ Zuzana BLAHÁKOVÁ Ivona RADOVÁ Lenka POSPÍŠILOVÁ Šárka DOUBEK Michael
Year of publication	2019
Type	Conference abstract
MU Faculty or unit	Faculty of Medicine
Citation
Description	Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder associated with oculocutaneous albinism, bleeding diathesis, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes. Homozygous or compound heterozygous mutations in HPS1, HPS3, HPS4 and several other genes lead to clinical manifestation of the disease.
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