{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T12:21:27Z","timestamp":1790079687883,"version":"4.0.1"},"reference-count":26,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2013,9,24]],"date-time":"2013-09-24T00:00:00Z","timestamp":1379980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Malformations are significant contributions to childhood mortality and disability. Their co\u2010occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most common, but tend to contribute little or no health burden and occur in only a minority of cases of a given XLID syndrome. Some malformations (e.g., lissencephaly, hydranencephaly, long bone deficiency, renal agenesis\/dysplasia) are not amenable to medical or surgical intervention; others (e.g., hydrocephaly, facial clefting, cardiac malformations, hypospadias) may be substantially corrected. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36179","type":"journal-article","created":{"date-parts":[[2013,10,11]],"date-time":"2013-10-11T22:01:35Z","timestamp":1381528895000},"page":"2741-2749","source":"Crossref","is-referenced-by-count":12,"title":["Malformations among the X\u2010linked intellectual disability syndromes"],"prefix":"10.1002","volume":"161","author":[{"given":"Roger E.","family":"Stevenson","sequence":"first","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles E.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Curtis","family":"Rogers","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,9,24]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1972.tb04274.x"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20734"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80899-5"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34190"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-012-3073-y"},{"key":"e_1_2_11_7_1","first-page":"743","article-title":"Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate","volume":"86","author":"Johnson JJ","year":"2010","journal-title":"Am J Med Genet"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-331"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1009"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029439"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.11.901"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1197-285"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04143.x"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2005.04.001"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1119"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.051334"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570122"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21288"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990730)85:3<216::AID-AJMG6>3.0.CO;2-X"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.8.1327"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.8.536"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000346192"},{"key":"e_1_2_11_23_1","first-page":"344","volume-title":"Atlas of X\u2010linked intellectual disability syndromes","author":"Stevenson RE","year":"2012"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.027672"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10005"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0794-408"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.071688"}],"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.36179","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36179","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T01:22:22Z","timestamp":1694481742000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36179"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9,24]]},"references-count":26,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2013,11]]}},"alternative-id":["10.1002\/ajmg.a.36179"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36179","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,9,24]]}}}