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Article

An innovative CRISPR/Cas9 mouse model of human isolated microtia indicates the potential contribution of CNVs near HMX1 gene.

International journal of pediatric otorhinolaryngology - 1 Dec 2024

Xing Wenshan, Zhang Jiao, Liu Tun, Wang Yue, Qian Jin, Wang Bingqing, Zhang Yongbiao, Zhang Qingguo

Abstract excerpt

BACKGROUND: Microtia is a prevalent congenital malformation, the precise etiology and pathogenesis of which remain elusive. Mutations in the non-coding region of the HMX1 gene have been implicated in isolated cases of microtia, emerging as a significant focus of contemporary research. Several pathogenic copy number variations (CNVs) proximal to the HMX1 gene have been documented in wild animal populations,...

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PMID: 39616960
DOI: 10.1016/j.ijporl.2024.112141

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