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

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...

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Principais autores: Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand, Masoumeh Falah
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2023-10-01
Serier:BMC Medical Genomics
Fag:
Hearing loss
Polyneuropathy
Retinitis pigmentosa
Ataxia
Cataract
PHARC
Online adgang:https://doi.org/10.1186/s12920-023-01682-w
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