Article

Frameshift variants in<i>TBX2</i>underlie autosomal-dominant hearing loss with incomplete penetrance of nystagmus

2024-07-19

Abstract excerpt

<h4>Purpose</h4> The transcription factor TBX2 plays a critical role in inner hair cells development in mice. Yet, the link between TBX2 malfunction and human hearing-related disorders remains unexplored. <h4>Methods</h4> Linkage analysis combined with whole genome sequencing was applied to identify the causative gene in two autosomal dominant Chinese families characterized by late-onset progressive sensorineural...

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Literature Corpus work: b4b17056-9147-5037-bffc-723576940fb7
DOI: 10.1101/2024.07.18.24310488

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