Open access
Aug 2026
Two Novel Compound Heterozygous CDH23 Mutations Underlying Non-Syndromic Hearing Loss
Two novel compound heterozygous CDH23 mutations are identified in a thirteen-month-old girl with NSHL, expanding the known spectrum of CDH23 mutation and adding to the understanding of the genotype–phenotype correlations in NSHL.
Pengcheng Xu, Qi Liao, Yun Lin et al.
· International Journal of Gen... · 0 citations