Associated Papers
Syndromic retinitis pigmentosa.
Karuntu JS et al.
Progress in Retinal and Eye Research, 2025
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
PHARC syndrome: an overview.
Harutyunyan L et al.
Orphanet Journal of Rare Diseases, 2024
Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12.
Daneshi A et al.
Bmc Medical Genomics, 2023
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P et al.
Plos Genetics, 2021
The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.
Nguyen XT et al.
Genes, 2021
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
Select a paper to view details