Associated Papers
Characterizing and expanding the neurological clinical spectrum of PHARC syndrome: a systematic review.
Mendes Ferreira V et al.
Acta Neurologica Belgica, 2025
Bioinformatics Analysis Identifies Sequence Determinants of Enzymatic Activity for the PHARC-Associated Lipase ABHD12.
Chakraborty A et al.
Biochemistry, 2025
A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype.
Ma M et al.
Molecular Genetics & Genomic Medicine, 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
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
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
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
Tingaud-Sequeira A et al.
Neurobiology of Disease, 2017
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Nishiguchi KM et al.
Ophthalmology, 2014
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