{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T11:12:23Z","timestamp":1790161943617,"version":"4.1.0"},"reference-count":19,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2001,3,1]]},"published-print":{"date-parts":[[2001,6,1]]},"abstract":"<jats:p>\n                    We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with the HDR syndrome (\n                    <jats:italic>h<\/jats:italic>\n                    ypoparathyroidism, sensorineural\n                    <jats:italic>d<\/jats:italic>\n                    eafness, and\n                    <jats:italic>r<\/jats:italic>\n                    enal dysplasia) (MIM 146255). Fluorescence in situ hybridisation and microsatellite analyses showed heterozygous gross deletions including GATA3 in four families. Sequence analysis showed heterozygous novel mutations in three families: a missense mutation within the first zinc finger domain at exon 4 (T823A, W275R), an unusual mutation at exon 4 (900insAA plus 901insCCT or C901AACCCT) resulting in a premature stop at codon 357 with loss of the second zinc finger domain, and a nonsense mutation at exon 6 (C1099T, R367X). No GATA3 abnormalities were identified in the remaining two families. The triad of HDR syndrome was variably manifested by patients with GATA3 abnormalities. The results suggest that HDR syndrome is primarily caused by GATA3 haploinsufficiency and is associated with a wide phenotypic spectrum.\n                  <\/jats:p>","DOI":"10.1136\/jmg.38.6.374","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:38:40Z","timestamp":1027751920000},"page":"374-380","source":"Crossref","is-referenced-by-count":138,"title":["GATA3 abnormalities and the phenotypic spectrum of HDR syndrome"],"prefix":"10.1136","volume":"38","author":[{"given":"Koji","family":"Muroya","sequence":"first","affiliation":[{"name":"aDepartment of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan, \n\nbDepartment of Paediatrics, Tokyo Electric Power Company Hospital, Tokyo, Japan, \n\ncDepartment of Paediatrics, Asahikawa Medical College, Asahikawa, Japan, \n\ndDepartment of Paediatrics, Dokkyo University School of Medicine, Koshigaya Hospital, Koshigaya, Japan, \n\neDepartment of Internal Medicine, Hirakata City Hospital, Hirakata, Japan, \n\nfDepartment of Internal Medicine, Kurashiki Chuo H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan, \n\nbDepartment of Paediatrics, Tokyo Electric Power Company Hospital, Tokyo, Japan, \n\ncDepartment of Paediatrics, Asahikawa Medical College, Asahikawa, Japan, \n\ndDepartment of Paediatrics, Dokkyo University School of Medicine, Koshigaya Hospital, Koshigaya, Japan, \n\neDepartment of Internal Medicine, Hirakata City Hospital, Hirakata, Japan, \n\nfDepartment of Internal Medicine, Kurashiki Chuo H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiya","family":"Ito","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan, \n\nbDepartment of Paediatrics, Tokyo Electric Power Company Hospital, Tokyo, Japan, \n\ncDepartment of Paediatrics, Asahikawa Medical College, Asahikawa, Japan, \n\ndDepartment of Paediatrics, Dokkyo University School of Medicine, Koshigaya Hospital, Koshigaya, Japan, \n\neDepartment of Internal Medicine, Hirakata City Hospital, Hirakata, Japan, \n\nfDepartment of Internal Medicine, Kurashiki Chuo H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiro","family":"Nagai","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan, \n\nbDepartment of Paediatrics, Tokyo Electric Power Company Hospital, Tokyo, Japan, \n\ncDepartment of Paediatrics, Asahikawa Medical College, Asahikawa, Japan, \n\ndDepartment of Paediatrics, Dokkyo University School of Medicine, Koshigaya Hospital, Koshigaya, Japan, \n\neDepartment of Internal Medicine, Hirakata City Hospital, Hirakata, Japan, \n\nfDepartment of Internal Medicine, Kurashiki Chuo H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruhiko","family":"Isotani","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan, \n\nbDepartment of Paediatrics, Tokyo Electric Power Company Hospital, Tokyo, Japan, \n\ncDepartment of Paediatrics, Asahikawa Medical College, Asahikawa, Japan, \n\ndDepartment of Paediatrics, Dokkyo University School of Medicine, Koshigaya Hospital, Koshigaya, Japan, \n\neDepartment of Internal Medicine, Hirakata City Hospital, Hirakata, Japan, \n\nfDepartment of Internal Medicine, Kurashiki Chuo H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuyoshi","family":"Iwata","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan, \n\nbDepartment of Paediatrics, Tokyo Electric Power Company Hospital, Tokyo, Japan, \n\ncDepartment of Paediatrics, Asahikawa Medical College, Asahikawa, Japan, \n\ndDepartment of Paediatrics, Dokkyo University School of Medicine, Koshigaya Hospital, Koshigaya, Japan, \n\neDepartment of Internal Medicine, Hirakata City Hospital, Hirakata, Japan, \n\nfDepartment of Internal Medicine, Kurashiki Chuo H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichi","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan, \n\nbDepartment of Paediatrics, Tokyo Electric Power Company Hospital, Tokyo, Japan, \n\ncDepartment of Paediatrics, Asahikawa Medical College, Asahikawa, Japan, \n\ndDepartment of Paediatrics, Dokkyo University School of Medicine, Koshigaya Hospital, Koshigaya, Japan, \n\neDepartment of Internal Medicine, Hirakata City Hospital, Hirakata, Japan, \n\nfDepartment of Internal Medicine, Kurashiki Chuo H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Fujimoto","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan, \n\nbDepartment of Paediatrics, Tokyo Electric Power Company Hospital, Tokyo, Japan, \n\ncDepartment of Paediatrics, Asahikawa Medical College, Asahikawa, Japan, \n\ndDepartment of Paediatrics, Dokkyo University School of Medicine, Koshigaya Hospital, Koshigaya, Japan, \n\neDepartment of Internal Medicine, Hirakata City Hospital, Hirakata, Japan, \n\nfDepartment of Internal Medicine, Kurashiki Chuo H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sotofumi","family":"Seishu","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan, \n\nbDepartment of Paediatrics, Tokyo Electric Power Company Hospital, Tokyo, Japan, \n\ncDepartment of Paediatrics, Asahikawa Medical College, Asahikawa, Japan, \n\ndDepartment of Paediatrics, Dokkyo University School of Medicine, Koshigaya Hospital, Koshigaya, Japan, \n\neDepartment of Internal Medicine, Hirakata City Hospital, Hirakata, Japan, \n\nfDepartment of Internal Medicine, Kurashiki Chuo H"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshimitsu","family":"Fukushima","sequence":"additional","affiliation":[{"name":"aDepartment of Paediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan, \n\nbDepartment of Paediatrics, Tokyo Electric Power Company Hospital, Tokyo, Japan, \n\ncDepartment of Paediatrics, Asahikawa Medical College, Asahikawa, Japan, \n\ndDepartment of Paediatrics, Dokkyo University School of Medicine, Koshigaya Hospital, Koshigaya, Japan, \n\neDepartment of Internal Medicine, Hirakata City 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