{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:29Z","timestamp":1786976789609,"version":"build-2736575974"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,2,26]],"date-time":"2009-02-26T00:00:00Z","timestamp":1235606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Human\n                    <jats:italic>GATA3<\/jats:italic>\n                    haploinsufficiency leads to HDR (hypoparathyroidism, deafness, and renal dysplasia) syndrome. The development of a specific subset of organs in which this transcription factor is expressed appears exquisitely sensitive to gene dosage. We report on a 14\u2010year\u2010old patient with symptomatic hypoparathyroidism, sensorineural bilateral deafness, unilateral renal dysplasia, bilateral palpebral ptosis, and horizontal nystagmus. Fundoscopy displayed symmetrical pseudopapilledema, and brain CT scan revealed basal ganglia calcifications. FISH analysis did not disclose any microdeletion in the 22q11.2 or 10p14 regions.\n                    <jats:italic>GATA3<\/jats:italic>\n                    mutation analysis identified a heterozygous deletion of GG nucleotides at codon 36 and 37 (c.108_109delGG) in exon 2 causing a frameshift with a premature stop codon after a new 15\u2010aminoacid sequence. Restriction endonuclease analysis performed in parents was negative. Our patient carries a novel \u201cde novo\u201d\n                    <jats:italic>GATA3<\/jats:italic>\n                    mutation, providing further evidence that HDR syndrome is caused by haploinsufficiency of\n                    <jats:italic>GATA3<\/jats:italic>\n                    , which may be responsible for a complex neurologic picture besides the known triad. \u00a9 2009 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.32689","type":"journal-article","created":{"date-parts":[[2009,2,26]],"date-time":"2009-02-26T13:37:55Z","timestamp":1235655475000},"page":"770-775","source":"Crossref","is-referenced-by-count":39,"title":["HDR syndrome: A novel \u201cde novo\u201d mutation in\n                    <i>GATA3<\/i>\n                    gene"],"prefix":"10.1002","volume":"149A","author":[{"given":"Silvio","family":"Ferraris","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo Giovanni","family":"Del 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