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Article

Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.

BioMed research international - 1 Jan 2020

Bai Xiaohui, Zhang Chi, Zhang Fengguo, Xiao Yun, Jin Yu, Wang Haibo, Xu Lei

Abstract excerpt

Hearing loss is one of the most common sensory disorders in newborns and is mostly caused by genetic factors. Autosomal recessive nonsyndromic hearing loss (ARNSHL) is usually characterized as a severe-to-profound congenital sensorineural hearing loss and later can cause various degrees of defect in the language and intelligent development of newborns. The mutations in LOXHD1 gene have been shown to cause DFNB77,...

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Identifiers

PMID: 32149082
DOI: 10.1155/2020/1685974
PMCID: PMC7049443

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