A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts

Abstract Here we report a consanguineous Pakistani family with multiple affected individuals with autosomal recessive congenital cataract (arCC). Exclusion analysis established linkage to chromosome 22q, and Sanger sequencing coupled with PCR-based chromosome walking identified a large homozygous ge...

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Bibliographic Details
Main Authors: Bushra Irum, Firoz Kabir, Nadav Shoshany, Shahid Y. Khan, Bushra Rauf, Muhammad Asif Naeem, Tanveer A. Qaiser, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin
Format: Article
Language:English
Published: Nature Publishing Group 2022-09-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-022-00208-7

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