Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts


PURPOSE This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases. METHODS Affected individuals underwent a detailed ophthalmological and clinical examination, and slit-lamp photographs were ascertained for affected individuals who have not yet been operated for the… (More)
DOI: 10.1371/journal.pone.0137973


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@inproceedings{Jiaox2015MissenseMI, title={Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts}, author={Xiaodong Jiaox and Shahid Yar Khan and Bushra Irum and Arif Khan and Qiwei Wang and Firoz Kabir and Asma Ashraf Khan and Tayyab Husnain and Javed Akram and S. Amer Riazuddin and J. Fielding. Hejtmancik and Yong-bin Yan}, booktitle={PloS one}, year={2015} }