Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
https://link.springer.com/content/pdf/10.1007/s10792-023-02857-1.pdf
Reference29 articles.
1. Sheeladevi S, Lawrenson JG, Fielder AR, Suttle CM (2016) Global prevalence of childhood cataract: a systematic review. Eye (Lond) 30:1160–1169
2. Churchill A, Graw J (2011) Clinical and experimental advances in congenital and paediatric cataracts. Philos Trans R Soc Lond B Biol Sci 366:1234–1249
3. Berry V, Ionides A, Pontikos N et al (2020) The genetic landscape of crystallins in congenital cataract. Orphanet J Rare Dis 15:333
4. Messina-Baas O, Cuevas-Covarrubias SA (2017) Inherited congenital cataract: a guide to suspect the genetic etiology in the cataract genesis. Mol Syndromol 8:58–78
5. Fernández-Alcalde C, Nieves-Moreno M, Noval S et al (2021) Molecular and genetic mechanism of non-syndromic congenital cataracts. Mutat Screen Span Fam Genes (Basel) 12:580
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