Unilateral Cataract and Retinitis Pigmentosa in a Patient With Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Syndrome: A Case Report
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Springer Science and Business Media LLC
Reference11 articles.
1. A novel Refsum-like disorder that maps to chromosome 20;Fiskerstrand T;Neurology,2009
2. Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism;Fiskerstrand T;Am J Hum Genet,2010
3. PHARC syndrome, a rare genetic disorder—case report;Dias Bastos PA;Mov Disord Clin Pract,2021
4. The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12: An ophthalmic perspective;Nguyen XT;Genes,2021
5. Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness;Yoshimura H;Ann Otol Rhinol Laryngol,2015
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