Associated Papers
Characterizing and expanding the neurological clinical spectrum of PHARC syndrome: a systematic review.
Mendes Ferreira V et al.
Acta Neurologica Belgica, 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
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
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
Hamza W et al.
Bmc Medical Genetics, 2015
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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