{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T10:40:19Z","timestamp":1694688019569},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,8,27]],"date-time":"2003-08-27T00:00:00Z","timestamp":1061942400000},"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":[[2003,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 1973, Jones and Smith described two maternal male first cousins with a similar pattern of malformation, including mental retardation, cubitus valgus, and unusual facies. The purpose of this report is to describe three additional cases, a 10\u2010year\u2010old male and his 30\u2010year\u2010old maternal uncle and an unrelated 15\u2010year\u2010old boy, bringing to five the total number of individuals with this disorder. The principal features include moderate mental retardation, mild microcephaly, a short philtrum, deep\u2010set, downslanting palpebral fissures, multiple nevi, and striking cubitus valgus. Documentation of this disorder in two maternal male first cousins as well as in a male and his maternal uncle support an X\u2010linked recessive mode of inheritance for this condition. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20494","type":"journal-article","created":{"date-parts":[[2003,10,7]],"date-time":"2003-10-07T08:03:09Z","timestamp":1065513789000},"page":"33-36","source":"Crossref","is-referenced-by-count":0,"title":["X\u2010linked cubitus valgus with mental retardation and typical face"],"prefix":"10.1002","volume":"123A","author":[{"given":"Kenneth Lyons","family":"Jones","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bryan D.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,8,27]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.230.5.718"},{"key":"e_1_2_4_3_1","first-page":"194","article-title":"The normal carrying angle of the elbow. A radiographic study","volume":"119","author":"Beals RK","year":"1976","journal-title":"Clin Ortho Related Res"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<80::AID-AJMG13>3.0.CO;2-O"},{"key":"e_1_2_4_5_1","first-page":"7","article-title":"Case report 21","volume":"2","author":"Jones KL","year":"1973","journal-title":"Syndrome Identification"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80350-9"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400405"}],"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.20494","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20494","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T20:13:52Z","timestamp":1694636032000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20494"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,8,27]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,11,15]]}},"alternative-id":["10.1002\/ajmg.a.20494"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20494","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,8,27]]}}}