A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.
Albinism
Hermansky-Pudlak Syndrome
Journal
Platelets
ISSN: 1369-1635
Titre abrégé: Platelets
Pays: England
ID NLM: 9208117
Informations de publication
Date de publication:
03 Apr 2021
03 Apr 2021
Historique:
pubmed:
5
4
2020
medline:
8
10
2021
entrez:
5
4
2020
Statut:
ppublish
Résumé
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
Identifiants
pubmed: 32245340
doi: 10.1080/09537104.2020.1742315
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM