Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12

Mutations in ABHD12 (OMIM: 613,599) are associated with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome (OMIM: 612674), which is a rare autosomal recessive neurodegenerat...

Source: BMC Medical Genomics - October 6, 2023 Category: Genetics & Stem Cells Authors: Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand and Masoumeh Falah Tags: Research Source Type: research