Novel Mutation in
congenital cataract
genotype
microphthalmia
pediatric cataract
pediatric ophthalmology
phenotype
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
13 07 2021
13 07 2021
Historique:
received:
25
05
2021
revised:
19
06
2021
accepted:
28
06
2021
entrez:
6
8
2021
pubmed:
7
8
2021
medline:
19
2
2022
Statut:
epublish
Résumé
Up to 25% of pediatric cataract cases are inherited, with half of the known mutant genes belonging to the crystallin family. Within these, crystallin beta B3 (
Identifiants
pubmed: 34356085
pii: genes12071069
doi: 10.3390/genes12071069
pmc: PMC8308043
pii:
doi:
Substances chimiques
CRYBB3 protein, human
0
Crystallins
0
beta-Crystallin B Chain
0
Types de publication
Case Reports
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Références
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