{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T17:18:16Z","timestamp":1760980696868},"reference-count":7,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3543,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 2\u2010year\u2010old boy with Juberg\u2010Marsidi syndrome. He has mental retardation, short stature, micropenis, cryptorchidism, and minor facial abnormalities. His Leidig cells responded to the administration of human chorionic gonadotropin and there were positive responses of LH and FSH to the administration of LH\u2010RH. He showed normal weight gain and head circumference which have not been described previously. The association of Juberg\u2010Marsidi syndrome with HbH disease was ruled out in the propositus. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320580410","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:09:00Z","timestamp":1118513340000},"page":"353-355","source":"Crossref","is-referenced-by-count":6,"title":["Juberg\u2010Marsidi syndrome: Report of an additional case"],"prefix":"10.1002","volume":"58","author":[{"given":"Masato","family":"Tsukahara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahito","family":"Nasu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Takihara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukio","family":"Hattori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Nakane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyoharu","family":"Kamata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Mitsui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeaki","family":"Hayashida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"714","article-title":"A new form of X\u2010linked mental retardation with growth retardation, deafness, and microgenitalism","volume":"32","author":"Juberg RC","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","first-page":"1","article-title":"The frequency of mumps and of mumps orchitis, and the consequences for sexuality and fertility","volume":"2","author":"Lambert B","year":"1951","journal-title":"Acta Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00439.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01843.x"},{"key":"e_1_2_1_6_1","first-page":"27","article-title":"An X\u2010linked syndrome with microcephaly, severe mental retardation, spasticity, epilepsy and deafness","volume":"26","author":"Renier WO","year":"1982","journal-title":"J Ment Defic Res"},{"key":"e_1_2_1_7_1","first-page":"1040","article-title":"The Juberg\u2010Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12\u201321)","volume":"52","author":"Saugier\u2010Veber P","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550310"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320580410","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320580410","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T06:36:27Z","timestamp":1698302187000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320580410"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,9,25]]},"references-count":7,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1995,9,25]]}},"alternative-id":["10.1002\/ajmg.1320580410"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320580410","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,9,25]]}}}