Associated Papers
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
Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.
Long X et al.
Bmc Medical Genomics, 2024
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