{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T20:54:32Z","timestamp":1761252872557,"version":"3.40.4"},"reference-count":28,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Audiol Neurotol"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>We present the case of a Dutch family with a new mutation (c523_528dup) in &lt;i&gt;GATA3&lt;\/i&gt; causing HDR syndrome. HDR syndrome is characterised by hypoparathyroidism, deafness and renal defects. In this study, we describe the audiometric characteristics of 5 patients from this family. Their hearing impairment was congenital, bilateral and symmetric. Audiograms showed mild-to-moderate hearing impairment with a flat audiogram configuration. Higher frequencies tended to be affected more strongly. Cross-sectional analyses showed no progression, and a mean audiogram was established. Psychophysical measurements in 3 HDR patients - including speech reception in noise, loudness scaling, gap detection and difference limen for frequency - were obtained to assess hearing function in greater detail. Overall, the results of the psychophysical measurements indicated characteristics of outer hair cell loss. CT scanning showed no anomalies in 3 of the HDR patients. Although 2 patients displayed vestibular symptoms, no anomalies in the vestibular system were found by vestibulo-ocular examination. Our results are in agreement with the theory that outer hair cell malfunctioning can play a major role in HDR syndrome.<\/jats:p>","DOI":"10.1159\/000356303","type":"journal-article","created":{"date-parts":[[2014,1,10]],"date-time":"2014-01-10T07:28:19Z","timestamp":1389338899000},"page":"106-114","source":"Crossref","is-referenced-by-count":12,"title":["Audiometric Characteristics of a Dutch Family with a New Mutation in &lt;b&gt;&lt;i&gt;GATA3&lt;\/i&gt;&lt;\/b&gt; Causing HDR Syndrome"],"prefix":"10.1159","volume":"19","author":[{"given":"E.","family":"van 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