Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Hermansky–Pudlak syndrome
albinism
chiasmal misrouting
foveal hypoplasia
nystagmus
ocular albinism
oculocutaneous albinism
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
30 03 2021
30 03 2021
Historique:
received:
01
02
2021
revised:
15
03
2021
accepted:
26
03
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
12
8
2021
Statut:
epublish
Résumé
Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky-Pudlak syndrome and Chédiak-Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically and genetically heterogenous (associated with seven genes). X-linked ocular albinism (OA) is associated with only one gene,
Identifiants
pubmed: 33808351
pii: genes12040508
doi: 10.3390/genes12040508
pmc: PMC8065601
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Wellcome Trust
ID : 205174/Z/16/Z
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom
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