Article

Two novel likely pathogenic variants of HARS2 identified in a Chinese family with Perrault syndrome

2020-10-26

Abstract excerpt

<title>Abstract</title> <p>Mutations in<italic> HARS2 </italic>are one of the genetic causes of Perrault syndrome, characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction. Here, we identified two novel putative pathogenic variants of <italic>HARS2</italic> in a Chinese family with sensorineural hearing loss including two affected male siblings, c.349G>A (p.Asp117Asn) and c.908T>C (p.Leu303Pro),...

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Literature Corpus work: 4a24cf1d-692a-5bfb-898d-8e8ddcd7aa85
DOI: 10.21203/rs.3.rs-41072/v2

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