A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype

Authors: Meijiao Ma, Jinhai Ma, Yuanyuan Lian, Xueli Wu, Wenming Wang, Weining Rong, Xunlun Sheng

Source: Molecular Genetics & Genomic Medicine, Vol 13, Iss 2, Pp n/a-n/a (2025)

Subject Terms: ABHD12, Chinese, new genotype‐phenotype, PHARC, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/b699e0acf60c42808ec7da3b704baa9e