Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families.
Xinyu ShiXiaozhou LiuYanjun ZongZhengdong ZhaoYu SunPublished in: Molecular genetics & genomic medicine (2024)
These findings contribute to a better understanding of the relationship between different variants of MARVELD2 and hearing. This could further expand the spectrum of deafness gene mutations and contribute to deafness patient management and genetic counseling.