Article
Genetic screening for hearing impairment and the genotype-phenotype correlation of GJB2 c.109G>A variants in 47,729 neonates: a population-based study in southern China.
International journal of pediatric otorhinolaryngology - 1 Mar 2026
Li Jianjun, Guo Meng, Yu Wenwen, Ma Li, Zhang Qi, Wang Qi, Yang Xueyu, He Hongyun, Liu Wenlan
Abstract excerpt
BACKGROUND: This study aimed to characterize the Variant profile of the 4 common deafness-causing genes and evaluated the genotype-phenotype correlation of GJB2 c.109G > A variants in a neonatal cohort, providing insights for early diagnosis of congenital hearing loss. METHODS: A total of 47,729 newborns in Shenzhen underwent integrated deafness gene screening (23 common pathogenic variants across GJB2, SLC26A4,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.