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Having excluded major differential diagnoses, e.g. Fanconi anemia, RAPADILINO syndrome and VACTERL association, we hypothesize that this boy represents a new multiple congenital anomaly\/mental retardation (MCA\/MR) syndrome. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10271","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:09:26Z","timestamp":1030316966000},"page":"209-213","source":"Crossref","is-referenced-by-count":14,"title":["Absence of thumbs, a\/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation"],"prefix":"10.1002","volume":"108","author":[{"given":"Dagmar","family":"Wieczorek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernhard","family":"K\u00f6ster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Gillessen\u2010Kaesbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,2,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1993.tb08638.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.6.412"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280312"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.051609898"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.2.79"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.2.110"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410204"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9926(199907)60:1<37::AID-TERA10>3.0.CO;2-R"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330312"},{"key":"e_1_2_5_11_1","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1542\/peds.84.4.658","article-title":"Clinical\u2010epidemiologic assessment of pattern of birth defect associated with human teratogens: application to diabetic embryopathy","volume":"84","author":"Khoury MJ","year":"1989","journal-title":"Pediatrics"},{"key":"e_1_2_5_12_1","first-page":"89","article-title":"Townes\u2010Brocks syndrome","volume":"36","author":"Powell CM","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_13_1","first-page":"81","article-title":"Radio\u2010digito\u2010facial dysplasia associated with dwarfism","volume":"38","author":"Simil\u00e4 S","year":"1983","journal-title":"Helv paediat Acta"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051140"},{"key":"e_1_2_5_15_1","first-page":"91","volume-title":"The genetics of hand malformations","author":"Temtamy S","year":"1978"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470735"},{"key":"e_1_2_5_17_1","first-page":"271","article-title":"Bilateral aplasia of the radius with abnormal hooking of the claviculae and sucrose\u2010maltose intolerance","volume":"36","author":"van Goethem H","year":"1981","journal-title":"Helv Paediat Acta"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440604"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/11956"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10271","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10271","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T12:53:45Z","timestamp":1700225625000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,2,4]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,3,15]]}},"alternative-id":["10.1002\/ajmg.10271"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10271","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,2,4]]}}}