Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.
Xiaodong JiaoShahid Y KhanHaiba KaulTariq ButtMuhammad Asif NaeemSheikh RiazuddinJ Fielding HejtmancikS Amer RiazuddinPublished in: PloS one (2019)
Here, we report a novel missense mutation in HSF4 associated with arCC in a familial case of Pakistani descent.