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

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 neurologic disor...

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Detalles Bibliográficos
Autores principales: Daneshi, Ahmad, Garshasbi, Masoud, Farhadi, Mohammad, Falavarjani, Khalil Ghasemi, Vafaee-Shahi, Mohammad, Almadani, Navid, Zabihi, MohammadSina, Ghalavand, Mohammad Amin, Falah, Masoumeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10557151/
https://www.ncbi.nlm.nih.gov/pubmed/37803361
http://dx.doi.org/10.1186/s12920-023-01682-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10557151/
https://www.ncbi.nlm.nih.gov/pubmed/37803361
http://dx.doi.org/10.1186/s12920-023-01682-w

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