Article
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Orphanet journal of rare diseases - 13 Sept 2024
Feng Haifeng, Huang Shasha, Ma Ying, Yang Jinyuan, Chen Yijin, Wang Guojian, Han Mingyu, Kang Dongyang, Zhang Xin, Dai Pu, Yuan Yongyi
Abstract excerpt
BACKGROUND: Hearing loss (HL) is the most common sensory birth deficit worldwide, with causative variants in more than 150 genes. However, the etiological contribution and clinical manifestations of X-linked inheritance in HL remain unclear within the Chinese HL population. In this study, we focused on X-linked hereditary HL and aimed to assess its contribution to hereditary HL and identify the genotype-phenotype...
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