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

• Main Authors: Ahmad Daneshi (Author), Masoud Garshasbi (Author), Mohammad Farhadi (Author), Khalil Ghasemi Falavarjani (Author), Mohammad Vafaee-Shahi (Author), Navid Almadani (Author), MohammadSina Zabihi (Author), Mohammad Amin Ghalavand (Author), Masoumeh Falah (Author)
• Format: Book
• Published: BMC, 2023-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 neurodegenerative disease. PHARC syndrome is easily misdiagnosed as other neurolog...