| TRIZULJAK, Jakub, Martina DOUBKOVÁ, Anna HRAZDIROVÁ, Zuzana VRZALOVÁ, Ivona BLAHÁKOVÁ, Lenka RADOVÁ, Šárka POSPÍŠILOVÁ a Michael DOUBEK. A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy. In ESHG 2019, Gothenburg, Sweden. ISSN 1018-4813. 2019. |
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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 a Michael DOUBEK. A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy. In \textit{ESHG 2019, Gothenburg, Sweden}. ISSN~1018-4813. 2019.
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