{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T09:35:58Z","timestamp":1771493758034,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,1,22]],"date-time":"2019-01-22T00:00:00Z","timestamp":1548115200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a case of a Chinese child with X\u2010linked Simpson\u2013Golabi\u2013Behmel syndrome (SGBS). To the best of our knowledge, this is the first report of 46,XY disorders of sex development (ambiguous genitalia, cryptorchidism, and uterus in the pelvis) in surviving SGBS patients. Other external anomalies included characteristic facial anomalies, overgrowth, macrocephaly, organomegaly, pectus excavatum, and cryptorchidism. It could be that the <jats:italic>GPC3<\/jats:italic> gene mutation caused Leydig cell dysfunction in our patient. Disorders of sex development can be included as part of the clinical spectrum of SGBS.<\/jats:p>","DOI":"10.1002\/ajmg.a.40669","type":"journal-article","created":{"date-parts":[[2019,1,24]],"date-time":"2019-01-24T00:53:07Z","timestamp":1548291187000},"page":"285-289","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Simpson\u2013Golabi\u2013Behmel syndrome with 46,XY disorders of sex development: A case report"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9031-2619","authenticated-orcid":false,"given":"Qian","family":"Fu","sequence":"first","affiliation":[{"name":"Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Department of Nephrology, National Center for Children's Health Beijing Children's Hospital, Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Wang","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Department of Nephrology, National Center for Children's Health Beijing Children's Hospital, Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhan","family":"Qi","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing Key Laboratory for Genetics of Birth Defects Beijing Children's Hospital, Capital Medical University, National Center for Children's Health  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaxin","family":"Zhang","sequence":"additional","affiliation":[{"name":"School of Pediatric Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,1,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513819609169311"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31360"},{"key":"e_1_2_5_4_1","article-title":"Ovotesticular disorder of sex development (Ovotestis) in SimpsonGolabi\u2010Behmel Syndrome: Expansion of the clinical spectrum","author":"De Paep M. E.","year":"2018","journal-title":"Pediatric and Developemental Pathology"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.141.6.1407"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33047"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430165"},{"key":"e_1_2_5_8_1","unstructured":"Iglesias B. V. Centeno G. Pascuccelli H. Ward F. Peters M. G. Filmus J. \u2026Histology and Histopathology. (2008).Expression pattern of glypican\u20103 (GPC3) during human embryonic and fetal development 23 1333\u20131340."},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.1997.2411044.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513811003777284"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36364"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.2.153"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3468(94)90525-8"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199812)213:4<431::AID-AJA8>3.0.CO;2-7"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0396-241"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00871.x"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31822"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38188"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.aju.2014.04.001"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0138-0"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35284"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38003"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb04307.x"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36086"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.1.133"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.12659\/AJCR.903964"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.40669","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.40669","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.40669","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.40669","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T06:00:12Z","timestamp":1694325612000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.40669"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,22]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["10.1002\/ajmg.a.40669"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.40669","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,22]]},"assertion":[{"value":"2018-04-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-09-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-01-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}