2023
DOI: 10.1002/ajmg.a.63456
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Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2

Emma N. M. M. von Scheibler,
Josine C. C. Widdershoven,
Denise C. P. B. M. van Barneveld
et al.

Abstract: Previous studies have shown that the 22q11.2 microdeletion, associated with 22q11.2 deletion syndrome (22q11.2DS), conveys an increased risk of chronic otitis media, and hearing loss at young age. This study reports on hearing loss and history of otolaryngological conditions in adults with 22q11.2DS. We conducted a retrospective study of 60 adults with 22q11.2DS (41.7% male) at median age 25 (range 16–74) years who had visited an otolaryngologist and audiologist for routine assessment at a 22q11.2 expert cente… Show more

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