Novel Mutations in <i>CLPP</i>, <i>LARS2</i>, <i>CDH23</i>, and <i>COL4A5</i> Identified in Familial Cases of Prelingual Hearing Loss
We report the underlying genetic causes of prelingual hearing loss (HL) segregating in eight large consanguineous families, ascertained from the Punjab province of Pakistan. Exome sequencing followed by segregation analysis revealed seven potentially pathogenic variants, including four novel alleles...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-08-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/11/9/978 |