Whole-exome sequencing identification of a recurrent

CRYBB2 WES autosomal dominant cataract genetics congenital cataracts mutation variant

Journal

Experimental and therapeutic medicine
ISSN: 1792-1015
Titre abrégé: Exp Ther Med
Pays: Greece
ID NLM: 101531947

Informations de publication

Date de publication:
Dec 2021
Historique:
received: 14 01 2021
accepted: 19 08 2021
entrez: 15 10 2021
pubmed: 16 10 2021
medline: 16 10 2021
Statut: ppublish

Résumé

Congenital cataracts is the most common cause of visual impairment and blindness in children. Although there have been extensive studies into the pathogenesis of congenital cataracts, the pathogenic mechanism underlying the recurrent variant

Identifiants

pubmed: 34650623
doi: 10.3892/etm.2021.10810
pii: ETM-22-6-10810
pmc: PMC8506933
doi:

Types de publication

Journal Article

Langues

eng

Pagination

1375

Informations de copyright

Copyright: © Chen et al.

Déclaration de conflit d'intérêts

The authors declare that they have no competing interests.

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Auteurs

Doudou Chen (D)

Eye School of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610075, P.R. China.
Department of Ophthalmology, Ineye Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610032, P.R. China.
Key Laboratory of Sichuan Province Ophthalmopathy Prevention & Cure and Visual Function Protection, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610032, P.R. China.

Siquan Zhu (S)

Eye School of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610075, P.R. China.
Department of Ophthalmology, Ineye Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610032, P.R. China.
Key Laboratory of Sichuan Province Ophthalmopathy Prevention & Cure and Visual Function Protection, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610032, P.R. China.
Department of Ophthalmology, Beijing Anzhen Hospital, Capital Medical University, Beijing 100006, P.R. China.

Classifications MeSH