{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T18:17:46Z","timestamp":1783448266351,"version":"3.55.0"},"reference-count":13,"publisher":"Bioscientifica","issue":"4","license":[{"start":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T00:00:00Z","timestamp":1772496000000},"content-version":"vor","delay-in-days":518,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,10,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding protein 3 (GATA3) gene. We present a case of a 56-year-old male diagnosed with hypoparathyroidism, sensorineural deafness, renal hypoplasia and epilepsy. Genetic testing revealed a novel GATA3 heterozygous mutation c.860C&amp;gt;A with a predicted amino acid substitution p.Ala287Asp. This hitherto unreported missense GATA mutation was characterized by a relatively late-onset and milder phenotype of the HDR triad.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                  <\/jats:sec>","DOI":"10.1530\/edm-24-0020","type":"journal-article","created":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T14:21:27Z","timestamp":1734618087000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":1,"title":["Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel\n                    <i>GATA3<\/i>\n                    mutation p.Ala287Asp"],"prefix":"10.1530","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-5430-3266","authenticated-orcid":true,"given":"Luke","family":"Vroegindewey","sequence":"first","affiliation":[{"name":"Lake Cumberland Regional Hospital 1 , , ,","place":["Somerset, Kentucky, USA"]},{"name":"Endocrinology Center of Lake Cumberland 2 , , ,","place":["Somerset, Kentucky, USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2456-7840","authenticated-orcid":true,"given":"John","family":"Kim","sequence":"additional","affiliation":[{"name":"Lake Cumberland Regional Hospital 1 , , ,","place":["Somerset, Kentucky, USA"]},{"name":"Endocrinology Center of Lake Cumberland 2 , , ,","place":["Somerset, Kentucky, USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1961-9909","authenticated-orcid":true,"given":"Dennis J","family":"Joseph","sequence":"additional","affiliation":[{"name":"Lake Cumberland Regional Hospital 1 , , ,","place":["Somerset, Kentucky, USA"]},{"name":"Endocrinology Center of Lake Cumberland 2 , , ,","place":["Somerset, Kentucky, USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","published-online":{"date-parts":[[2024,12,19]]},"reference":[{"key":"2026070713495147300_bib1","doi-asserted-by":"crossref","first-page":"1254556","DOI":"10.3389\/fgene.2023.1254556","article-title":"A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review","volume":"14","author":"Tao","year":"2023","journal-title":"Front Genet"},{"key":"2026070713495147300_bib2","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/S0022-3476(77)80445-9","article-title":"Familial nephrosis, nerve deafness, and hypoparathyroidism","volume":"91","author":"Barakat","year":"1977","journal-title":"J Pediatr"},{"key":"2026070713495147300_bib3","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/(SICI)1096-8628(19971231)73:4<416::AID-AJMG9>3.0.CO;2-L","article-title":"HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with 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