Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants

Yu, S; Chen, WX; Zhang, YF; Chen, C; Ni, YH; Duan, B; Wang, HJ; Xu, ZM

Xu, ZM (corresponding author), Fudan Univ, Natl Childrens Med Ctr, Childrens Hosp, Dept Otolaryngol Head & Neck Surg, 399 Wan Yuan Rd, Shanghai 201102, Peoples R China.; Wang, HJ (corresponding author), Fudan Univ, Natl Childrens Med Ctr, Pediat Res Inst, Childrens Hosp, 399 Wan Yuan Rd, Shanghai 201102, Peoples R China.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2021; 145 ():

Abstract

Background: Biallelic mutations in LOXHD1 have been identified as the cause of DFNB77 (deafness, autosomal recessive 77). It is a new progressive, sev......

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