A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy
EUROPEAN JOURNAL OF HUMAN GENETICS
Trizuljak, J; Doubkova, M; Hrazdirova, A; Vrzalova, Z; Blahakova, I; Radova, L; Pospisilova, S; Doubek, M, 2019: A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy. EUROPEAN JOURNAL OF HUMAN GENETICS 27, p. 1252 - 1252
Research Groups:
CEITEC authors: