article_metadata: Meijiao Ma Jinhai Ma Yuanyuan Lian Xueli Wu Wenming Wang Weining Rong Xunlun Sheng
article_metadata: 10.1002/mgg3.70055
article_metadata: Mol Genet Genomic Med
article_metadata: 2025 Feb;13(2):e70055.
article_metadata: abhd12 chinese pharc new genotype‐phenotype
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39910854/
article_metadata: Ataxia / genetics Ataxia / pathology Cataract / diagnosis Cataract / genetics Cataract / pathology Heterozygote Monoacylglycerol Lipases / genetics Pedigree Phenotype Retinitis Pigmentosa / diagnosis Retinitis Pigmentosa / genetics Retinitis Pigmentosa / pathology
article_metadata: Ataxia / genetics Ataxia / pathology Cataract / diagnosis Cataract / genetics Cataract / pathology Heterozygote Monoacylglycerol Lipases / genetics Pedigree Phenotype Retinitis Pigmentosa / diagnosis Retinitis Pigmentosa / genetics Retinitis Pigmentosa / pathology Case Reports Adult East Asian People Female Genotype Hearing Loss, Sensorineural / diagnosis Hearing Loss, Sensorineural / genetics Hearing Loss, Sensorineural / pathology Humans Male Mutation Polyneuropathies / genetics Polyneuropathies / pathology ABHD12 protein, human Monoacylglycerol Lipases Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
article_metadata: PMC11799048
article_metadata: 39910854
article_metadata: A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype
article_metadata: 2025