{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:36:30Z","timestamp":1790472990393,"version":"4.1.0"},"reference-count":11,"publisher":"Tohoku University Medical Press","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Tohoku J. Exp. Med."],"published-print":{"date-parts":[[2018]]},"DOI":"10.1620\/tjem.245.187","type":"journal-article","created":{"date-parts":[[2018,7,13]],"date-time":"2018-07-13T22:27:10Z","timestamp":1531520830000},"page":"187-191","source":"Crossref","is-referenced-by-count":7,"title":["Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies"],"prefix":"10.1620","volume":"245","author":[{"given":"Kento","family":"Morozumi","sequence":"first","affiliation":[{"name":"Department of Urology, Yamagata Prefectural Central Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Ainoya","sequence":"additional","affiliation":[{"name":"Department of Urology, Miyagi Children\u2019s Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Takemoto","sequence":"additional","affiliation":[{"name":"Department of Urology, Miyagi Children\u2019s Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyohide","family":"Sakai","sequence":"additional","affiliation":[{"name":"Department of Urology, Miyagi Children\u2019s Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"622","reference":[{"key":"1","unstructured":"Castori, M., Bottillo, I., Morlino, S., Barone, C., Cascone, P., Pediatric Craniofacial Malformation (PECRAM) Study Group,Grammatico, P. &amp; Laino, L. (2016)  Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ~ 1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.  <i>Birth Defects Res. A Clin. Mol. Teratol<\/i>., 106, 61-68."},{"key":"2","doi-asserted-by":"crossref","unstructured":"Gordon, C.T., Attanasio, C., Bhatia, S., Benko, S., Ansari, M., Tan, T.Y., Munnich, A., Pennacchio, L.A., Abadie, V., Temple, I.K., Goldenberg, A., van Heyningen, V., Amiel, J., FitzPatrick, D., Kleinjan, D.A., et al. (2014)  Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.  <i>Hum. Mutat<\/i>., 35, 1011-1020.","DOI":"10.1002\/humu.22606"},{"key":"3","doi-asserted-by":"crossref","unstructured":"Iliev, D.I., Ranke, M.B. &amp; Wollmann, H.A. (2002)  Mixed gonadal dysgenesis and precocious puberty.  <i>Horm. Res<\/i>., 58, 30-33.","DOI":"10.1159\/000063213"},{"key":"4","doi-asserted-by":"crossref","unstructured":"Karaer, K., Yuksel, Z., Yalinbas, E. &amp; Scherer, G. (2014)  A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene.  <i>Turk. Pediatri Ars<\/i>., 49, 154-156.","DOI":"10.5152\/tpa.2014.1187"},{"key":"5","doi-asserted-by":"crossref","unstructured":"Katoh-Fukui, Y., Igarashi, M., Nagasaki, K., Horikawa, R., Nagai, T., Tsuchiya, T., Suzuki, E., Miyado, M., Hata, K., Nakabayashi, K., Hayashi, K., Matsubara, Y., Baba, T., Morohashi, K., Igarashi, A., et al. (2015)  Testicular dysgenesis\/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.  <i>Mol. Genet. Genomic Med<\/i>., 3, 550-557.","DOI":"10.1002\/mgg3.165"},{"key":"6","doi-asserted-by":"crossref","unstructured":"Kearsey, I. &amp; Hutson, J.M. (2017)  Disorders of sex development (DSD): not only babies with ambigious genitalia.  A practical guide for surgeons.  <i>Pediatr. Surg. Int<\/i>., 33, 355-361.","DOI":"10.1007\/s00383-016-4036-5"},{"key":"7","doi-asserted-by":"crossref","unstructured":"Kim, G.J., Sock, E., Buchberger, A., Just, W., Denzer, F., Hoepffner, W., German, J., Cole, T., Mann, J., Seguin, J.H., Zipf, W., Costigan, C., Schmiady, H., Rostasy, M., Kramer, M., et al.  (2015)  Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.  <i>J. Med. Genet<\/i>., 52, 240-247.","DOI":"10.1136\/jmedgenet-2014-102864"},{"key":"8","doi-asserted-by":"crossref","unstructured":"Slavotinek, A., Schwarz, C., Getty, J.F., Stecko, O., Goodman, F. &amp; Kingston, H. (1999)  Two cases with interstitial deletions of chromosome 2 and sex reversal in one.  <i>Am. J. Med. Genet<\/i>., 86, 75-81.","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<75::AID-AJMG15>3.0.CO;2-J"},{"key":"9","doi-asserted-by":"crossref","unstructured":"Tam, Y.H., Wong, Y.S., Pang, K.K., To, K.F., Yiu, A.K., Wong, H.Y., Tsui, S.Y., Mou, J.W., Chan, K.W. &amp; Lee, K.H. (2016)  Tumor risk of children with 45,X\/46,XY gonadal dysgenesis in relation to their clinical presentations: further insights into the gonadal management.  <i>J. Pediatr. Surg<\/i>., 51, 1462-1466.","DOI":"10.1016\/j.jpedsurg.2016.03.006"},{"key":"10","doi-asserted-by":"crossref","unstructured":"Walters-Sen, L.C., Thrush, D.L., Hickey, S.E., Hashimoto, S., Reshmi, S., Gastier-Foster, J.M., Pyatt, R.E. &amp; Astbury, C. (2014)  Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.  <i>Eur. J. Med. Genet<\/i>., 57, 315-318.","DOI":"10.1016\/j.ejmg.2014.04.018"},{"key":"11","doi-asserted-by":"crossref","unstructured":"Zody, M.C., Garber, M., Adams, D.J., Sharpe, T., Harrow, J., Lupski, J.R., Nicholson, C., Searle, S.M., Wilming, L., Young, S.K., Abouelleil, A., Allen, N.R., Bi, W., Bloom, T., Borowsky, M.L., et al. (2006)  DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.  <i>Nature<\/i>, 440, 1045-1049.","DOI":"10.1038\/nature04689"}],"container-title":["The Tohoku Journal of Experimental Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/tjem\/245\/3\/245_187\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,7,14]],"date-time":"2018-07-14T05:05:05Z","timestamp":1531544705000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/tjem\/245\/3\/245_187\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018]]}},"URL":"https:\/\/doi.org\/10.1620\/tjem.245.187","relation":{},"ISSN":["0040-8727","1349-3329"],"issn-type":[{"value":"0040-8727","type":"print"},{"value":"1349-3329","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}