{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:12:46Z","timestamp":1792152766701,"version":"4.4.0"},"reference-count":19,"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":4055,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 10 Japanese individuals from 3 families affected with Aarskog syndrome. Pulmonary stenosis and ventricular septal defect with spontaneous closure were detected respectively, in 2 of them as an uncommon finding. A review documented 169 non\u2010Japanese cases (2 with congenital heart defects), while of 30 Japanese individuals reported till now, 4 (including ours) had cardiac anomalies. We propose that this combination is not coincidental and that in all cases of Aarskog syndrome a cardiac evaluation is indicated. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320500404","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:07:10Z","timestamp":1118509630000},"page":"318-322","source":"Crossref","is-referenced-by-count":21,"title":["Congenital heart defects in Aarskog syndrome"],"prefix":"10.1002","volume":"50","author":[{"given":"Isabel","family":"Fernandez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masato","family":"Tsukahara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Mito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Yoshii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masashi","family":"Uchida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyosato","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Kajii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80247-5"},{"key":"e_1_2_1_3_1","first-page":"418","article-title":"The Aarskog syndrome","volume":"85","author":"Abe K","year":"1981","journal-title":"Acta Paediatr Jpn"},{"key":"e_1_2_1_4_1","first-page":"71","volume-title":"Gene\u2010Environment Interaction In Common Diseases","author":"Ando M","year":"1977"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(90)90311-F"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00408.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283632"},{"key":"e_1_2_1_8_1","first-page":"221","article-title":"On the occurrence of macroorchidism and mental handicap in the Aarskog syndrome","volume":"37","author":"Fryns JP","year":"1989","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430164"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450135"},{"key":"e_1_2_1_11_1","first-page":"253","article-title":"Dental findings in patients with Aarskog syndrome","volume":"87","author":"Halse A","year":"1979","journal-title":"Scand J Dent Res"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00999.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.6.477"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(75)90619-4"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01545.x"},{"key":"e_1_2_1_16_1","first-page":"368","article-title":"A male of Aarskog syndrome","volume":"90","author":"Oguchi M","year":"1985","journal-title":"Jpn J Pediatr"},{"key":"e_1_2_1_17_1","first-page":"221","article-title":"A case of Aarskog syndrome","volume":"14","author":"Ohsaki E","year":"1974","journal-title":"Congenital Anomalies"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.1.44"},{"key":"e_1_2_1_19_1","first-page":"248","article-title":"The facial\u2010digital\u2010genital (Aarskog) syndrome","volume":"126","author":"Sugarman GI","year":"1973","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01991.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320500404","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320500404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T03:01:33Z","timestamp":1698116493000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320500404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,5]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1994,5]]}},"alternative-id":["10.1002\/ajmg.1320500404"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320500404","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,5]]}}}