Article

Autosomal Dominant Non-Syndromic Hearing Loss Maps to DFNA33 (13q34) and Co-Segregates with Splice Site Variants in ATP11A, A Phospholipid Flippase Gene

2021-05-28

Abstract excerpt

<title>Abstract</title> <p>Whole genome approaches are superior for identifying recessive genes, however discovery of dominant genes including deafness genes (DFNA) remains challenging. Herein we report a new DFNA gene, <italic>ATP11A</italic>, in a Newfoundland family with a variable form of bilateral sensorineural hearing loss (SNHL). Targeted screening of DFNA genes based on audioprofiles was unsuccessful. Gen...

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Literature Corpus work: 43c6ca85-0728-5b79-9903-189cc9be676c
DOI: 10.21203/rs.3.rs-530835/v1

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Autosomal Dominant Non-Syndromic Hearing Loss Maps to DFNA33 (13q34) and Co-Segregates with Splice Site Variants in ATP11A, A Phospholipid Flippase GeneDOI 10.21203/rs.3.rs-530835/v1Read

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