BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
Perrine Pennamen, Linh Le, Angèle Tingaud‐Sequeira, Mathieu Fiore, Anne Bauters, Nguyen Van Duong Béatrice, V. Coste, Jean‐Claude Bordet, Claudio Plaisant, Modibo Diallo, Vincent Michaud, Aurélien Trimouille, Didier Lacombe, Eulalie Lasseaux, Cédric Delevoye, Fanny Morice Picard, Bruno Delobel, Michael S. Marks, Benoı̂t Arveiler
Topics & Concepts
Hermansky–Pudlak syndromeOculocutaneous albinismAlbinismBleeding diathesisGeneticsBiologyMelanosomeGeneAlleleMutationPlateletMedicineImmunologyPathologyMelaninPulmonary fibrosisFibrosismelanin and skin pigmentationDermatologic Treatments and ResearchRNA regulation and disease