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(1992) Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. N Engl J Med 327: 1069\u20131074.","DOI":"10.1056\/NEJM199210083271506"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2 Barakat AY, D\u2019Albora JB, Martin MM, Jose PA (1977) Familial nephrosis, nerve deafness, and hypoparathyroidism. J Pediatr 91: 61\u201364.","DOI":"10.1016\/S0022-3476(77)80445-9"},{"key":"3","doi-asserted-by":"publisher","unstructured":"3 Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, et al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406: 419\u2013422.","DOI":"10.1038\/35019088"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4 Grigorieva IV, Mirczuk S, Gaynor KU, Nesbit MA, Grigorieva EF, et al. (2010) Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2. J Clin Invest 120: 2144\u20132155.","DOI":"10.1172\/JCI42021"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5 Barakat AJ, Raygada M, Rennert OM (2018) Barakat syndrome revisited. Am J Med Genet A 176: 1341\u20131348.","DOI":"10.1002\/ajmg.a.38693"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6 Hernandez AM, Villamar M, Rosello L, Moreno-Pelayo MA, Moreno F, et al. (2007) Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations. Am J Med Genet A 143A: 757\u2013762.","DOI":"10.1002\/ajmg.a.31617"},{"key":"7","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1182\/blood.V80.3.575.575","volume":"80","author":"SH Orkin","year":"1992","unstructured":"7 Orkin SH (1992) GATA-binding transcription factors in hematopoietic cells. Blood 80: 575\u2013581.","journal-title":"Blood","ISSN":"https:\/\/id.crossref.org\/issn\/0006-4971","issn-type":"print"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8 Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, et al. (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet 38: 374\u2013380.","DOI":"10.1136\/jmg.38.6.374"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9 Mino Y, Kuwahara T, Mannami T, Shioji K, Ono K, et al. (2005) Identification of a novel insertion mutation in GATA3 with HDR syndrome. Clin Exp Nephrol 9: 58\u201361.","DOI":"10.1007\/s10157-004-0327-6"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10 Adachi M, Tachibana K, Asakura Y, Tsuchiya T (2006) A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). J Pediatr Endocrinol Metab 19: 87\u201392.","DOI":"10.1515\/JPEM.2006.19.1.87"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11 Saito T, Fukumoto S, Ito N, Suzuki H, Igarashi T, et al. (2009) A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism. J Bone Miner Metab 27: 386\u2013389.","DOI":"10.1007\/s00774-008-0015-9"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12 Fukami M, Muroya K, Miyake T, Iso M, Kato F, et al. (2011) GATA3 abnormalities in six patients with HDR syndrome. Endocr J 58: 117\u2013121.","DOI":"10.1507\/endocrj.K10E-234"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13 Ohta M, Eguchi-Ishimae M, Ohshima M, Iwabuki H, Takemoto K, et al. (2011) Novel dominant-negative mutant of GATA3 in HDR syndrome. J Mol Med (Berl) 89: 43\u201350.","DOI":"10.1007\/s00109-010-0702-6"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14 Nakamura A, Fujiwara F, Hasegawa Y, Ishizu K, Mabe A, et al. (2011) Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome. Endocr J 58: 123\u2013130.","DOI":"10.1507\/endocrj.K10E-246"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15 Nanba K, Usui T, Nakamura M, Toyota Y, Hirota K, et al. (2013) A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. Endocr Pract 19: e17\u2013e20.","DOI":"10.4158\/EP12186.CR"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16 Hiramatsu R, Ubara Y, Tajima T, Usui T, Namba K, et al. (2015) Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis. Clin Case Rep 3: 73\u201375.","DOI":"10.1002\/ccr3.125"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17 Okawa T, Yoshida M, Usui T, Kudou T, Iwasaki Y, et al. (2015) A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome. BMC Endocr Disord 15: 66.","DOI":"10.1186\/s12902-015-0065-7"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18 Higuchi Y, Hasegawa K, Yamashita M, Fujii Y, Tanaka H, et al. (2016) HDR syndrome in a Japanese girl with biliary atresia: a case report. BMC Pediatr 16: 14.","DOI":"10.1186\/s12887-016-0550-9"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19 Matsuo K, Kobayashi A, Tanahashi Y, Maruyama S, Niitsu Y, et al. (2017) Novel splice site mutation in GATA3 in a patient with HDR syndrome. Clin Pediatr Endocrinol 26: 271\u2013273.","DOI":"10.1297\/cpe.26.271"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20 Kamezaki M, Kusaba T, Adachi T, Yamashita N, Nakata M, et al. (2017) Unusual proliferative glomerulonephritis in a patient diagnosed to have hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome with a novel mutation in the GATA3 gene. Intern Med 56: 1393\u20131397.","DOI":"10.2169\/internalmedicine.56.7930"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21 Kusakawa M, Sato T, Hosoda A, Araki E, Matsuzaki Y, et al. (2019) A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation. Hum Genome Var 6: 55.","DOI":"10.1038\/s41439-019-0087-1"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22 Kita M, Kuwata Y, Usui T (2019) Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response. Auris Nasus Larynx 46: 808\u2013812.","DOI":"10.1016\/j.anl.2018.10.005"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23 Ikeuchi M, Kiyota K, Itonaga T, Kawano-Matsuda F, Ohata Y, et al. (2021) A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess. CEN Case Rep 10: 241\u2013243.","DOI":"10.1007\/s13730-020-00551-0"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24 Kishi H, Jojima T, Kogai T, Iijima T, Ohira E, et al. (2020) A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation. Clin Case Rep 8: 2619\u20132624.","DOI":"10.1002\/ccr3.3186"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25 Takai S, Adachi M, Takahashi H, Shirakura M, Honkura Y, et al. (2023) HDR syndrome, detected in the neonatal period by newborn hearing screening. Auris Nasus Larynx 51: 406\u2013410.","DOI":"10.1016\/j.anl.2023.08.007"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26 Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, et al. (1997) HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet 73: 416\u2013418.","DOI":"10.1002\/(SICI)1096-8628(19971231)73:4<416::AID-AJMG9>3.0.CO;2-L"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27 Fujimoto S, Yokochi K, Morikawa H, Nakano M, Shibata H, et al. (1999) Recurrent cerebral infarctions and del(10)(p14p15.1) <i>de novo<\/i> in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. Am J Med Genet 86: 427\u2013429.","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<427::AID-AJMG6>3.0.CO;2-I"},{"key":"28","doi-asserted-by":"publisher","unstructured":"28 Labastie MC, Bories D, Chabret C, Gregoire JM, Chretien S, et al. (1994) Structure and expression of the human GATA3 gene. Genomics 21: 1\u20136.","DOI":"10.1006\/geno.1994.1217"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29 Al-Shibli A, Al Attrach I, Willems PJ (2011) Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia. Pediatr Nephrol 26: 1167\u20131170.","DOI":"10.1007\/s00467-011-1835-8"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30 Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, et al. (2007) Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet 16: 265\u2013275.","DOI":"10.1093\/hmg\/ddl454"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31 Ferraris S, Del Monaco AG, Garelli E, Carando A, De Vito B, et al. (2009) HDR syndrome: a novel \u201c<i>de novo<\/i>\u201d mutation in GATA3 gene. Am J Med Genet A 149A: 770\u2013775.","DOI":"10.1002\/ajmg.a.32689"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32 Lin YH, Wu CC, Hsu TY, Chiu WY, Hsu CJ, et al. (2015) Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing. Mutat Res 771: 1\u20135.","DOI":"10.1016\/j.mrfmmm.2014.11.001"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33 Kim C, Cheong HI, Kim JH, Yu YS, Kwon JW (2011) Presumed atypical HDR syndrome associated with band keratopathy and pigmentary retinopathy. J Pediatr Ophthalmol Strabismus 48 Online: e1\u2013e3.","DOI":"10.3928\/01913913-20090616-08"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34 Goodwin G, Hawley PP, Miller DT (2016) A case of HDR syndrome and ichthyosis: dual diagnosis by whole-genome sequencing of novel mutations in GATA3 and STS genes. J Clin Endocrinol Metab 101: 837\u2013840.","DOI":"10.1210\/jc.2015-3704"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35 Shim YS, Choi W, Hwang IT, Yang S (2015) Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation. Ann Pediatr Endocrinol Metab 20: 59\u201363.","DOI":"10.6065\/apem.2015.20.1.59"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36 Chu XY, Li YP, Nie M, Wang O, Jiang Y, et al. (2017) A novel <i>de novo<\/i> GATA-binding protein 3 mutation in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome. Chin Med J (Engl) 130: 1378\u20131380.","DOI":"10.4103\/0366-6999.206348"},{"key":"37","doi-asserted-by":"crossref","unstructured":"37 Yu S, Chen WX, Lu W, Chen C, Ni Y, et al. (2020) Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria. Mol Genet Genomic Med 8: e1222.","DOI":"10.1002\/mgg3.1222"},{"key":"38","doi-asserted-by":"crossref","unstructured":"38 Horta M, Lino C, Lemos MC (2017) Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome and GATA3. QJM 110: 837\u2013838.","DOI":"10.1093\/qjmed\/hcx176"},{"key":"39","doi-asserted-by":"crossref","unstructured":"39 van Looij MA, Meijers-Heijboer H, Beetz R, Thakker RV, Christie PT, et al. (2006) Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. Audiol Neurootol 11: 373\u2013379.","DOI":"10.1159\/000095899"},{"key":"40","doi-asserted-by":"crossref","unstructured":"40 Dinoi E, Pierotti L, Mazoni L, Citro F, Della Valentina S, et al. (2023) Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome. J Endocrinol Invest 47: 469\u2013478.","DOI":"10.1007\/s40618-023-02171-8"},{"key":"41","doi-asserted-by":"crossref","unstructured":"41 Vallejo-Urrego MA, Parra-Morales AM, Gonzalez A (2018) HDR syndrome in a Colombian woman with a genital tract malformation: first case report in Latin America. Rev Salud Publica (Bogota) 20: 637\u2013640.","DOI":"10.15446\/rsap.v20n5.71057"},{"key":"42","doi-asserted-by":"crossref","unstructured":"42 Rodriguez Benitez P, Jaldo Rodriguez MT, Hernandez Coronado A, Torres Aguilera E, Melero R, et al. (2016) Barakat syndrome or HDR syndrome: another association of kidney disease and deafness. Nefrologia 36: 188\u2013189.","DOI":"10.1016\/j.nefroe.2015.04.006"},{"key":"43","doi-asserted-by":"crossref","unstructured":"43 Chiu WY, Chen HW, Chao HW, Yann LT, Tsai KS (2006) Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. J Clin Endocrinol Metab 91: 4587\u20134592.","DOI":"10.1210\/jc.2006-0864"},{"key":"44","doi-asserted-by":"crossref","unstructured":"44 Zhu ZY, Zhou QL, Ni SN, Gu W (2014) GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome. World J Pediatr 10: 278\u2013280.","DOI":"10.1007\/s12519-014-0505-x"},{"key":"45","doi-asserted-by":"crossref","unstructured":"45 Kobayashi H, Kasahara M, Hino M, Yoshimura H, Takahara S, et al. (2006) A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome. J Endocrinol Invest 29: 851\u2013853.","DOI":"10.1007\/BF03347383"},{"key":"46","doi-asserted-by":"crossref","unstructured":"46 van Beelen E, Leijendeckers JM, Admiraal RJ, Huygen PL, Hoefsloot LH, et al. (2014) Audiometric characteristics of a dutch family with a new mutation in GATA3 causing HDR syndrome. Audiol Neurootol 19: 106\u2013114.","DOI":"10.1159\/000356303"},{"key":"47","doi-asserted-by":"crossref","unstructured":"47 Chen L, Chen B, Leng W, Lui X, Wu Q, et al. (2015) Identification of a novel <i>de novo<\/i> GATA3 mutation in a patient with HDR syndrome. J Int Med Res 43: 718\u2013724.","DOI":"10.1177\/0300060515591065"},{"key":"48","doi-asserted-by":"crossref","unstructured":"48 Wang Y, Nie M, Wang O, Li Y, Jiang Y, et al. (2019) Genetic screening in a large Chinese cohort of childhood onset hypoparathyroidism by next-generation sequencing combined with TBX1-MLPA. J Bone Miner Res 34: 2254\u20132263.","DOI":"10.1002\/jbmr.3854"},{"key":"49","doi-asserted-by":"crossref","unstructured":"49 Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, et al. (2004) Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J Biol Chem 279: 22624\u201322634.","DOI":"10.1074\/jbc.M401797200"},{"key":"50","doi-asserted-by":"crossref","unstructured":"50 Prabhu PP, Ballal S, Augustine R, Shetty M (2023) A novel mutation in GATA3 gene in a case of hypoparathyroidism, deafness, and renal dysplasia syndrome. Indian J Nephrol 33: 377\u2013380.","DOI":"10.4103\/ijn.ijn_250_21"},{"key":"51","doi-asserted-by":"crossref","unstructured":"51 Lawrence MG, Leiding JW, Lyons JJ, Hsu AP, Nelson CC, et al. (2016) GATA3 haploinsufficiency does not block allergic sensitization or atopic disease. J Allergy Clin Immunol 137: 627\u2013629.e2.","DOI":"10.1016\/j.jaci.2015.06.041"},{"key":"52","doi-asserted-by":"crossref","unstructured":"52 Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, et al. (2014) Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int 85: 1429\u20131433.","DOI":"10.1038\/ki.2013.508"},{"key":"53","doi-asserted-by":"crossref","unstructured":"53 Gaynor KU, Grigorieva IV, Nesbit MA, Cranston T, Gomes T, et al. (2009) A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab 94: 3897\u20133904.","DOI":"10.1210\/jc.2009-0717"},{"key":"54","doi-asserted-by":"crossref","unstructured":"54 Gomes TS, Gortner L, Dockter G, Leitner D, Thakker RV, et al. (2012) HDR syndrome: a follow-up genotype-phenotype analysis of a <i>de novo<\/i> missense Thr272Ile mutation in exon 4 of GATA3. Klin Padiatr 224: 452\u2013454.","DOI":"10.1055\/s-0032-1329947"},{"key":"55","doi-asserted-by":"crossref","unstructured":"55 Gogorza MS, Mena E, Serra G, Jimenez A, Noval M, et al. (2018) The hypoparathyroidism-deafness-renal dysplasia syndrome: a case report. Endocrinol Diabetes Nutr (Engl Ed) 65: 187\u2013188.","DOI":"10.1016\/j.endien.2017.12.001"},{"key":"56","doi-asserted-by":"crossref","unstructured":"56 Yesiltepe Mutlu G, Kirmizibekmez H, Nakamura A, Fukami M, Hatun S (2015) A novel <i>de novo<\/i> GATA binding protein 3 mutation in a turkish boy with hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Res Pediatr Endocrinol 7: 344\u2013348.","DOI":"10.4274\/jcrpe.2249"},{"key":"57","doi-asserted-by":"crossref","unstructured":"57 Zahirieh A, Nesbit MA, Ali A, Wang K, He N, et al. (2005) Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab 90: 2445\u20132450.","DOI":"10.1210\/jc.2004-1969"},{"key":"58","doi-asserted-by":"crossref","unstructured":"58 Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, et al. (2017) Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome. Nephrol Dial Transplant 32: 830\u2013837.","DOI":"10.1093\/ndt\/gfw271"},{"key":"59","doi-asserted-by":"crossref","unstructured":"59 Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, et al. (2017) Exome-wide association study identifies GREB1L mutations in congenital kidney malformations. Am J Hum Genet 101: 1034.","DOI":"10.1016\/j.ajhg.2017.11.003"},{"key":"60","doi-asserted-by":"crossref","unstructured":"60 Spennato U, Siegwart J, Hartmann B, Fischer EJ, Bracco C, et al. (2023) Barakat syndrome diagnosed decades after initial presentation. Endocrinol Diabetes Metab Case Rep 2023: 23\u20130018.","DOI":"10.1530\/EDM-23-0018"},{"key":"61","doi-asserted-by":"crossref","unstructured":"61 Goncalves CI, Carrico JN, Omar OM, Abdalla E, Lemos MC (2023) Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site. Front Endocrinol (Lausanne) 14: 1207425.","DOI":"10.3389\/fendo.2023.1207425"},{"key":"62","doi-asserted-by":"crossref","unstructured":"62 Chenouard A, Isidor B, Allain-Launay E, Moreau A, Le Bideau M, et al. (2013) Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding. Eur J Pediatr 172: 107\u2013110.","DOI":"10.1007\/s00431-012-1845-y"},{"key":"63","doi-asserted-by":"crossref","unstructured":"63 Kojima M, Nagano T, Nakata K, Hara S, Katsurada N, et al. (2018) Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report. Onco Targets Ther 11: 1595\u20131599.","DOI":"10.2147\/OTT.S161420"},{"key":"64","doi-asserted-by":"crossref","unstructured":"64 Mitsui T, Narumi S, Inokuchi M, Nagasaki K, Nakazawa M, et al. (2014) Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations. J Clin Endocrinol Metab 99: E2421\u2013E2428.","DOI":"10.1210\/jc.2014-2174"},{"key":"65","doi-asserted-by":"crossref","unstructured":"65 Cabanillas R, Dineiro M, Cifuentes GA, Castillo D, Pruneda PC, et al. (2018) Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. BMC Med Genomics 11: 58.","DOI":"10.1186\/s12920-018-0375-5"},{"key":"66","doi-asserted-by":"crossref","unstructured":"66 Moldovan O, Carvalho R, Jorge Z, Medeira A (2011) A new case of HDR syndrome with severe female genital tract malformation: comment on \u201cNovel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations\u201d by Hernandez et al. Am J Med Genet A 155A: 2329\u20132330.","DOI":"10.1002\/ajmg.a.34153"},{"key":"67","doi-asserted-by":"crossref","unstructured":"67 Tao Y, Yang L, Han D, Zhao C, Song W, et al. (2023) A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review. Front Genet 14: 1254556.","DOI":"10.3389\/fgene.2023.1254556"},{"key":"68","doi-asserted-by":"crossref","unstructured":"68 Muroya K, Mochizuki T, Fukami M, Iso M, Fujita K, et al. (2010) Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation. Endocr J 57: 171\u2013174.","DOI":"10.1507\/endocrj.K09E-313"},{"key":"69","doi-asserted-by":"crossref","unstructured":"69 Sun Y, Xia W, Xing X, Li M, Wang O, et al. (2009) Germinal mosaicism of GATA3 in a family with HDR syndrome. Am J Med Genet A 149A: 776\u2013778.","DOI":"10.1002\/ajmg.a.32706"},{"key":"70","doi-asserted-by":"crossref","unstructured":"70 Doneray H, Usui T, Kaya A, Donmez AS (2015) The first Turkish case of Hypoparathyroidism, Deafness and Renal dysplasia (HDR) syndrome. J Clin Res Pediatr Endocrinol 7: 140\u2013143.","DOI":"10.4274\/jcrpe.1874"},{"key":"71","doi-asserted-by":"crossref","unstructured":"71 Martins FTA, Ramos BD, Sartorato EL (2018) A rare case of deafness and renal abnormalities in HDR syndrome caused by a <i>de novo<\/i> mutation in the GATA3 gene. Genet Mol Biol 41: 794\u2013798.","DOI":"10.1590\/1678-4685-gmb-2017-0194"},{"key":"72","doi-asserted-by":"crossref","unstructured":"72 Gandolfi A, Ratnasamy K, Minutti C (2023) Hypoparathyroidism, sensorineural deafness, and renal disease syndrome presenting with febrile seizures and hypocalcemia. JCEM Case Rep 1: luac025.","DOI":"10.1210\/jcemcr\/luac025"},{"key":"73","doi-asserted-by":"crossref","unstructured":"73 Yang A, Kim J, Ki CS, Hong SH, Cho SY, et al. (2017) HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report. BMC Med Genet 18: 121.","DOI":"10.1186\/s12881-017-0484-6"},{"key":"74","doi-asserted-by":"crossref","unstructured":"74 Verri A, Maraschio P, Devriendt K, Uggetti C, Spadoni E, et al. (2004) Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. Ann Genet 47: 281\u2013287.","DOI":"10.1016\/j.anngen.2004.03.001"},{"key":"75","doi-asserted-by":"crossref","unstructured":"75 Benetti E, Murer L, Bordugo A, Andreetta B, Artifoni L (2009) 10p12.1 deletion: HDR phenotype without DGS2 features. Exp Mol Pathol 86: 74\u201376.","DOI":"10.1016\/j.yexmp.2008.10.003"},{"key":"76","doi-asserted-by":"crossref","unstructured":"76 Lindstrand A, Malmgren H, Verri A, Benetti E, Eriksson M, et al. (2010) Molecular and clinical characterization of patients with overlapping 10p deletions. Am J Med Genet A 152A: 1233\u20131243.","DOI":"10.1002\/ajmg.a.33366"},{"key":"77","doi-asserted-by":"crossref","unstructured":"77 Melis D, Genesio R, Boemio P, Del Giudice E, Cappuccio G, et al. (2012) Clinical description of a patient carrying the smallest reported deletion involving 10p14 region. Am J Med Genet A 158A: 832\u2013835.","DOI":"10.1002\/ajmg.a.34133"},{"key":"78","doi-asserted-by":"crossref","unstructured":"78 Fukai R, Ochi N, Murakami A, Nakashima M, Tsurusaki Y, et al. (2013) Co-occurrence of 22q11 deletion syndrome and HDR syndrome. Am J Med Genet A 161A: 2576\u20132581.","DOI":"10.1002\/ajmg.a.36083"},{"key":"79","doi-asserted-by":"crossref","unstructured":"79 Mejia JD, Cervantes L, Puerta H, Bauer M, Diaz A (2014) Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction. J Pediatr Endocrinol Metab 27: 961\u2013965.","DOI":"10.1515\/jpem-2014-0004"},{"key":"80","doi-asserted-by":"crossref","unstructured":"80 Ohta S, Isojima T, Mizuno Y, Kato M, Mimaki M, et al. (2017) Partial monosomy of 10p and duplication of another chromosome in two patients. Pediatr Int 59: 99\u2013102.","DOI":"10.1111\/ped.13181"},{"key":"81","doi-asserted-by":"crossref","unstructured":"81 Fernandez RM, Sanchez J, Garcia-Diaz L, Pelaez-Nora Y, Gonzalez-Meneses A, et al. (2016) Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): report of the first familial case of 10p monosomy affecting to two familial members of different generations. Am J Med Genet A 170A: 1268\u20131273.","DOI":"10.1002\/ajmg.a.37559"},{"key":"82","doi-asserted-by":"crossref","unstructured":"82 Vidavalur R, Devapatla S (2018) A unique genomic variant of HDR syndrome in newborn. Indian Pediatr 55: 705\u2013706.","DOI":"10.1007\/s13312-018-1364-7"},{"key":"83","doi-asserted-by":"crossref","unstructured":"83 Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, et al. (2019) Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature. BMC Endocr Disord 19: 111.","DOI":"10.1186\/s12902-019-0438-4"},{"key":"84","doi-asserted-by":"crossref","unstructured":"84 Shao QY, Wu PL, Lin BY, Chen SJ, Liu J, et al. (2021) Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature. Mol Cytogenet 14: 29.","DOI":"10.1186\/s13039-021-00546-1"},{"key":"85","doi-asserted-by":"crossref","unstructured":"85 Bernardini L, Sinibaldi L, Capalbo A, Bottillo I, Mancuso B, et al. (2009) HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. Clin Genet 76: 117\u2013119.","DOI":"10.1111\/j.1399-0004.2009.01170.x"},{"key":"86","unstructured":"86 Shao Q, Wu P, Lin B, Chen S, Liu J, et al. (2022) Clinical and genetic analysis of a newborn with hypoparathyroidism, sensorineural hearing loss, and renal dysplasia syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 39: 222\u2013226 (In Chinese)."},{"key":"87","doi-asserted-by":"crossref","unstructured":"87 Gamba BF, Rosenberg C, Costa S, Richieri-Costa A, Ribeiro-Bicudo LA (2015) Cleft lip\/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14. Mol Syndromol 6: 39\u201343.","DOI":"10.1159\/000371404"},{"key":"88","doi-asserted-by":"crossref","unstructured":"88 Lemos MC, Thakker RV (2020) Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations. Hum Mutat 41: 1341\u20131350.","DOI":"10.1002\/humu.24052"},{"key":"89","doi-asserted-by":"crossref","unstructured":"89 Lykke-Andersen S, Jensen TH (2015) Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes. Nat Rev Mol Cell Biol 16: 665\u2013677.","DOI":"10.1038\/nrm4063"},{"key":"90","doi-asserted-by":"crossref","unstructured":"90 Karis A, Pata I, van Doorninck JH, Grosveld F, de Zeeuw CI, et al. (2001) Transcription factor GATA-3 alters pathway selection of olivocochlear neurons and affects morphogenesis of the ear. J Comp Neurol 429: 615\u2013630.","DOI":"10.1002\/1096-9861(20010122)429:4<615::AID-CNE8>3.0.CO;2-F"},{"key":"91","doi-asserted-by":"crossref","unstructured":"91 Lawoko-Kerali G, Rivolta MN, Holley M (2002) Expression of the transcription factors GATA3 and Pax2 during development of the mammalian inner ear. J Comp Neurol 442: 378\u2013391.","DOI":"10.1002\/cne.10088.abs"},{"key":"92","doi-asserted-by":"crossref","unstructured":"92 Wang L, Lin QF, Wang HY, Guan J, Lan L, et al. (2017) Clinical auditory phenotypes associated with GATA3 gene mutations in familial hypoparathyroidism-deafness-renal Dysplasia Syndrome. Chin Med J (Engl) 130: 703\u2013709.","DOI":"10.4103\/0366-6999.201600"},{"key":"93","doi-asserted-by":"crossref","unstructured":"93 Aksoylar S, Aydinok Y, Serdaroglu E, Coker M, Ozdemir F, et al. (2004) HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome presenting with hypocalcemia-induced generalized psoriasis. J Pediatr Endocrinol Metab 17: 1031\u20131034.","DOI":"10.1515\/JPEM.2004.17.7.1031"},{"key":"94","doi-asserted-by":"crossref","unstructured":"94 Bilezikian JP (2020) Hypoparathyroidism. 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