Article

Splice-altering variant in TECTA as a cause of hearing loss DFNA8/12

2023-08-09

Abstract excerpt

<h4>Purpose: </h4> The aim of this study was to determine the genetic cause of early onset autosomal dominant hearing loss segregating in five-generation kindred of Chinese descent and provide preimplantation genetic testing for them. Methods Clinical examination, pedigree analysis, exome sequencing, minigene-based splicing analysis and in vivo RNA analysis were carried out on the family. Preimplantation genetic...

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Literature Corpus work: bb101406-2556-5fe3-b344-1be7e3f0ab8c
DOI: 10.21203/rs.3.rs-3226302/v1

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