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Whole-exome sequencing identification of a recurrent CRYBB2 variant in a four-generation Chinese family with congenital nuclear cataracts

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 CRYBB2:c.62T>A(p.I21N) has not been previously reported...

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Detalles Bibliográficos
Autores principales:	Chen, Doudou, Zhu, Siquan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2021
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8506933/ https://www.ncbi.nlm.nih.gov/pubmed/34650623 http://dx.doi.org/10.3892/etm.2021.10810

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