INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family
Author:
Affiliation:
1. Department of Otorhinolaryngology-Head and Neck Surgery; School of Medicine University of Maryland; Baltimore Maryland
2. Molecular Biology & Genetics Department; Liaquat University of Medical & Health Sciences; Jamshoro Pakistan
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13143/fullpdf
Reference12 articles.
1. Rapidly progressive cataract formation associated with non-small-cell lung cancer therapy;Liu;J Cataract Refract Surg,2016
2. Double-pass technique and compensation-comparison method in eyes with cataract;Martinez-Roda;J Cataract Refract Surg,2016
3. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families;Riazuddin;Invest Ophthalmol Vis Sci,2005
4. Risk factors for idiopathic congenital/infantile cataract;Haargaard;Invest Ophthalmol Vis Sci,2005
5. Mutations and mechanisms in congenital and age-related cataracts;Shiels;Exp Eye Res,2017
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