TRIZULJAK, Jakub, Martina DOUBKOVÁ, Anna HRAZDIROVÁ, Zuzana VRZALOVÁ, Ivona BLAHÁKOVÁ, Lenka RADOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy. In ESHG 2019, Gothenburg, Sweden. 2019. ISSN 1018-4813. |
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@proceedings{1609437, author = {Trizuljak, Jakub and Doubková, Martina and Hrazdirová, Anna and Vrzalová, Zuzana and Blaháková, Ivona and Radová, Lenka and Pospíšilová, Šárka and Doubek, Michael}, booktitle = {ESHG 2019, Gothenburg, Sweden}, keywords = {Hermansky-Pudlak syndrome}, language = {eng}, title = {A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy}, year = {2019} }
TY - CONF ID - 1609437 AU - Trizuljak, Jakub - Doubková, Martina - Hrazdirová, Anna - Vrzalová, Zuzana - Blaháková, Ivona - Radová, Lenka - Pospíšilová, Šárka - Doubek, Michael PY - 2019 TI - A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy KW - Hermansky-Pudlak syndrome N2 - 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. ER -
TRIZULJAK, Jakub, Martina DOUBKOVÁ, Anna HRAZDIROVÁ, Zuzana VRZALOVÁ, Ivona BLAHÁKOVÁ, Lenka RADOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy. In \textit{ESHG 2019, Gothenburg, Sweden}. 2019. ISSN~1018-4813.
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