{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:44:51Z","timestamp":1791121491503,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3888,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Analysis of families with non\u2010syndromal split hand\/split foot (SHSF) confirms the existence of 2 distinct entities, most probably caused by at least 2 different autosomal dominant genes. In the families in which the SHSF malformation is non\u2010syndromal and limited to the hands and feet (type I), the pattern of inheritance is of a regular autosomal dominant gene with a high penetrance (96%). In families in which at least one individual has other limb malformations and SHSF (type II), the transmission is often unusual. In most families, the gene is non\u2010penetrant, sometimes for generations, before the birth of the first affected individual. Thereafter, among the descendants of affected individuals, the penetrance is reduced (66%), suggesting the possible existence of another gene which controls the appearance of the clinical manifestations. The possibility that SHSF associated with other limb malformations is a disorder caused by trinucleotide repeat instability is raised. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320530107","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:44:53Z","timestamp":1118511893000},"page":"29-32","source":"Crossref","is-referenced-by-count":32,"title":["On the inheritance of the split hand\/split foot malformation"],"prefix":"10.1002","volume":"53","author":[{"given":"Jo\u00ebl","family":"Zlotogora","sequence":"first","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":"crossref","first-page":"467","DOI":"10.1093\/oxfordjournals.jhered.a104438","article-title":"A pedigree of syndactylism","volume":"29","author":"Bailey S","year":"1938","journal-title":"J Hered"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00496078"},{"key":"e_1_2_1_4_1","first-page":"234","article-title":"Dactylaplasia in mice. A two\u2010locus model for developmental anomalies","volume":"72","author":"Chay CK","year":"1981","journal-title":"J Hered"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.3.316"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0193-31"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1973.tb08070.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00914.x"},{"key":"e_1_2_1_9_1","first-page":"44","article-title":"Split hand with unusual complications","volume":"7","author":"Graham JB","year":"1955","journal-title":"Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470606"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1093\/oxfordjournals.jhered.a104713","article-title":"Congenital malformation of hands and feet in man","volume":"30","author":"Hegdekatti RM","year":"1939","journal-title":"J Hered"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80114-2"},{"key":"e_1_2_1_13_1","first-page":"356","article-title":"On the inheritance of hand and foot anomalies in six families","volume":"5","author":"Johnston O","year":"1953","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1951.tb02460.x"},{"key":"e_1_2_1_15_1","volume-title":"Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X\u2010Linked Pheno\u2010types","author":"McKusick VA","year":"1992"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273072"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.4.220"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a108073"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270414"},{"key":"e_1_2_1_20_1","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1093\/oxfordjournals.jhered.a103786","article-title":"Syndactylism with variations","volume":"24","author":"Scott W","year":"1933","journal-title":"J Hered"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02386848"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420112"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442225"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1959.tb01719.x"},{"key":"e_1_2_1_25_1","series-title":"BD:OAS","first-page":"36","volume-title":"The genetics of hand malformations","author":"Temtamy SA","year":"1978"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190317"},{"key":"e_1_2_1_27_1","volume-title":"Congenital Malformations. Notes and Comments","author":"Warkany J","year":"1971"},{"key":"e_1_2_1_28_1","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1093\/oxfordjournals.jhered.a104301","article-title":"A pedigree of syndactyly","volume":"28","author":"Wightman JC","year":"1937","journal-title":"J Hered"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.2.138"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320530107","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320530107","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T12:38:54Z","timestamp":1698237534000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320530107"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,10,15]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,10,15]]}},"alternative-id":["10.1002\/ajmg.1320530107"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320530107","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,10,15]]}}}