{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T04:50:09Z","timestamp":1698382209305},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5512,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 3 persons in a 3\u2010generation Brazilian family affected with complex limb defects. The spectrum of limb anomalies ranged from isolated toe syndactyly to severe bilateral tibial aplasia. Radioulnar synostosis was present in 2 of the 3 patients. Clinical and genetic aspects are discussed.<\/jats:p>","DOI":"10.1002\/ajmg.1320360102","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:48:41Z","timestamp":1118548121000},"page":"1-6","source":"Crossref","is-referenced-by-count":20,"title":["Autosomal dominant tibial hemimelia\u2013polysyndactyly\u2010triphalangeal thumbs syndrome: Report of a Brazilian family"],"prefix":"10.1002","volume":"36","author":[{"given":"A.","family":"Richieri\u2010Costa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"de Miranda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. Y.","family":"Kamiya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. V.","family":"Freire\u2010Maia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","series-title":"for the national Foundation\u2014March of Dimes. BD:OAS","first-page":"25","volume-title":"Genetic Counselling for Autosomal Dominant Disorders with INcomplete Penetrance","author":"Aylsworth AS","year":"1979"},{"key":"e_1_2_1_3_1","first-page":"429","article-title":"Assenza congenita delle tibia e sordomutismo nel quatro fratelli","volume":"16","author":"Carraro A","year":"1931","journal-title":"Chir Organi Mov"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.4.293"},{"key":"e_1_2_1_5_1","series-title":"for the National Foundation\u2014March of Dimes. BD:OAS","first-page":"221","volume-title":"A seemingly unique polydactyly\u2013syndactyly syndrome in four persons in three generations. The first Conference on The Clinical Delineation of Birth Defects. Part III: Limb Malformations","author":"Eaton GO","year":"1969"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.5.352"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a108727"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1302\/0301-620X.65B1.6822603"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1111892"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273072"},{"key":"e_1_2_1_11_1","unstructured":"MeldeR(1892):Anatomische Untersuchung eines Kindes mit beiderseitigem Defekt der Tibia und Polydaktylie an H\u00e4nden und f\u00fcssen. Inaug Diss Med Marburg."},{"key":"e_1_2_1_12_1","first-page":"271","article-title":"Estimativa de riesgos geneticos","volume":"31","author":"Otto PA","year":"1979","journal-title":"Anal Acad Ci Ex Fis Nat Buenos Aires"},{"key":"e_1_2_1_13_1","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1302\/0301-620X.53B3.495","article-title":"Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter","volume":"53","author":"Pashayan H","year":"1971","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_14_1","first-page":"15","article-title":"Un syndrome osseux peu commun associant une heptadactylie et une aplasie des tibias","volume":"16","author":"Reber M","year":"1967","journal-title":"J Genet Hum"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280209"},{"key":"e_1_2_1_16_1","first-page":"1009","article-title":"Tibial hemimelia\u2010split hand\/foot syndrome. Report of a Brazilian family","volume":"11","author":"Richieri\u2010Costa A","year":"1988","journal-title":"Rev Bras Genet"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270414"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280424"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-197052020-00021"},{"key":"e_1_2_1_20_1","first-page":"95","article-title":"Four cases of bilateral split\u2010hand with bilateral aplasia of the tibia in a family","volume":"19","author":"Takahashi T","year":"1968","journal-title":"Orthop Surg (Tokyo)"},{"key":"e_1_2_1_21_1","series-title":"BD:OAS","first-page":"1","volume-title":"The Genetics of Hand Malformations","author":"Temtamy S","year":"1978"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01705987"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140310"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb00630.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.1320360102","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320360102","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T17:48:39Z","timestamp":1697996919000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320360102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,5]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1990,5]]}},"alternative-id":["10.1002\/ajmg.1320360102"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320360102","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,5]]}}}