Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the
Ashkenazi Jewish
HPS-3
HPS3
Hermansky–Pudlak syndrome
deletion
oculocutaneous albinism
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
04
05
2022
accepted:
07
07
2022
entrez:
1
9
2022
pubmed:
2
9
2022
medline:
2
9
2022
Statut:
epublish
Résumé
Hermansky-Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by oculocutaneous albinism (OCA) and bleeding diathesis. To date, 11 HPS types have been reported (HPS-1 to HPS-11), each defined by disease-causing variants in specific genes. Variants in the
Identifiants
pubmed: 36046236
doi: 10.3389/fgene.2022.936064
pii: 936064
pmc: PMC9420964
doi:
Types de publication
Journal Article
Langues
eng
Pagination
936064Informations de copyright
Copyright © 2022 Marek-Yagel, Abudi-Sinreich, Macarov, Veber, Shalva, Philosoph, Pode-Shakked, Malicdan and Anikster.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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