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

• Hoofdauteurs: Ahmad Daneshi (Auteur), Masoud Garshasbi (Auteur), Mohammad Farhadi (Auteur), Khalil Ghasemi Falavarjani (Auteur), Mohammad Vafaee-Shahi (Auteur), Navid Almadani (Auteur), MohammadSina Zabihi (Auteur), Mohammad Amin Ghalavand (Auteur), Masoumeh Falah (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2023-10-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...