Associated Papers
Characterizing and expanding the neurological clinical spectrum of PHARC syndrome: a systematic review.
Mendes Ferreira V et al.
Acta Neurologica Belgica, 2025
PHARC syndrome: an overview.
Harutyunyan L et al.
Orphanet Journal of Rare Diseases, 2024
Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.
Long X et al.
Bmc Medical Genomics, 2024
Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.
Wawrocka A et al.
International Journal of Molecular Sciences, 2024
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.
Demir S et al.
Ophthalmic Genetics, 2024
Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12.
Daneshi A et al.
Bmc Medical Genomics, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28749477 (PubMed )
Supplement: gim201797x2.xlsx › Sheet1
A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.
Lerat J et al.
Journal of the Peripheral Nervous System : Jpns, 2017
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
Chen DH et al.
Human Mutation, 2013
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