HIGHLIGHTS
- who: Khazeema Yousaf and colleagues from the Department of Biotechnology, Lahore College for Women University, Lahore, Pakistan Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Hong Kong, China have published the paper: Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma, in the Journal: Genes 2023, 310 of 25/08/2022
- what: The authors conducted a variant analysis of multiple PCG families from Pakistan and identified a family that was misdiagnosed with PCG who had CHED2, which was confirmed after the identification of a variant . . .
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