A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies
Hermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disorders in lysosome‐related organelles. Ten genes are associated with different forms of HPS. HPS type 9 (HPS-9) is caused by biallelic variants of BLOC1S6. To date, only three patients with HPS-9 have be...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Taylor & Francis Group
2021-04-01
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Series: | Platelets |
Subjects: | |
Online Access: | http://dx.doi.org/10.1080/09537104.2020.1742315 |