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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| 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 |