Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)

• Main Authors: Doris Boeckelmann (Author), Mira Wolter (Author), Katharina Neubauer (Author), Felix Sobotta (Author), Antonia Lenz (Author), Hannah Glonnegger (Author), Barbara Käsmann-Kellner (Author), Jasmin Mann (Author), Stephan Ehl (Author), Barbara Zieger (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Hermansky-Pudlak syndrome (HPS), a rare heterogeneous autosomal recessive disorder, is characterized by oculocutaneous albinism (OCA) and a bleeding diathesis due to a defect regarding melanosomes and platelet delta (δ)-granule secretion. Interestingly, patients with HPS type 2 (HPS-2) or HPS type 1...