A Novel Likely Pathogenic Variant in the <i>BLOC1S5</i> Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies

A Novel Likely Pathogenic Variant in the <i>BLOC1S5</i> Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies

Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) and a platelet function disorder of varying severity as its most prominent features. The genes associated with HPS encode for different BLOC- (biogenesis of lysosome-related organelles complex) comple...

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Bibliographic Details
Main Authors: Doris Boeckelmann, Mira Wolter, Barbara Käsmann-Kellner, Udo Koehler, Lea Schieber-Nakamura, Barbara Zieger
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:Cells
Subjects:
Hermansky-Pudlak syndrome
HPS-11
bleeding tendency
hypopigmentation
oculocutaneous albinism
<i>BLOC1S5</i>
Online Access:https://www.mdpi.com/2073-4409/10/10/2630

Internet

https://www.mdpi.com/2073-4409/10/10/2630

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