A Novel CRYBB2 Splicing Mutation Is Associated With Lens Extracellular Matrix Remodeling and Vascular Alterations in Congenital Cataract.

چکیده

We identify the genetic cause of autosomal dominant congenital cataract in a large family and define how a CRYBB2 splice-site variant perturbs lens development and associated ocular phenotypes. Whole-exome sequencing and Sanger sequencing were used for variant identification and segregation.…

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موضوعات مرتبط

• کاتاراکت (آب مروارید)
• چشم پزشکی کودکان