Associated Papers
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R et al.
Human Genetics, 2022
Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.
Souissi A et al.
Genetic Testing and Molecular Biomarkers, 2021
Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.
Yu J et al.
Hereditas, 2020
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.
Demain LAM et al.
Journal of Human Genetics, 2020
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