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

• Autori principali: Ahmad Daneshi (Autore), Masoud Garshasbi (Autore), Mohammad Farhadi (Autore), Khalil Ghasemi Falavarjani (Autore), Mohammad Vafaee-Shahi (Autore), Navid Almadani (Autore), MohammadSina Zabihi (Autore), Mohammad Amin Ghalavand (Autore), Masoumeh Falah (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2023-10-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...