{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T20:50:42Z","timestamp":1761339042304,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,4]]},"abstract":"<jats:p>Preaxial polydactyly was observed in up to five generations of an Indian family living in a village in the Rajkot district (Gujarat). Among the 71 affected members, 45 were males and 26 were females. All these affected members showed preaxial polydactyly manifesting as a well formed, articulated extra digit of the hand or foot. Twenty other cases were also identified with polydactyly involving triphalangeal digits replacing the thumbs or duplication of the big toe(s). To the best of our knowledge, the present family is the largest in which several members have preaxial polydactyly of different types. No other abnormalities were apparent. The present study strongly suggests that preaxial polydactyly with a well formed extra digit, triphalangeal thumbs, and duplication of the big toe can be manifestations of the same autosomal dominant gene. It is likely that other factors are modifying the expression of this gene.<\/jats:p>","DOI":"10.1136\/jmg.30.4.296","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"296-299","source":"Crossref","is-referenced-by-count":17,"title":["Polydactyly: a study of a five generation Indian family."],"prefix":"10.1136","volume":"30","author":[{"given":"U","family":"Radhakrishna","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A S","family":"Multani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J V","family":"Solanki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V C","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N J","family":"Chinoy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,4,1]]},"reference":[{"key":"ref_1","first-page":"405","article-title":"Polydactyly: a genetic study in South America","volume":"25","year":"1973","unstructured":"Castilla E, Paz J, Mutchinick 0, Munoz E, Giargivtti E, Gelman Z. Polydactyly: a genetic study in South America. Am J Hum Genet 1973;25:405-12.","journal-title":"Am J Hum Genet"},{"key":"ref_2","first-page":"75","article-title":"A genetic study of polydactyly in Utah","volume":"22","author":"Woolf, C.M.; Woolf, R.M.","year":"1970","unstructured":"Woolf CM, Woolf RM. A genetic study of polydactyly in Utah. Am J7 Hum Genet 1970;22:75-8.","journal-title":"Am J7 Hum Genet"},{"issue":"1","key":"ref_3","first-page":"1","article-title":"Clinical genetics of polydactylism","volume":"1","author":"Ohkura, K.","year":"1956","unstructured":"Ohkura K. Clinical genetics of polydactylism. Jpn J Hum Genet 1956;1:1 1-23.","journal-title":"Jpn J Hum Genet"},{"key":"ref_4","first-page":"398","article-title":"A study of major congenital defects in Japanese infants","volume":"10","author":"Neel, J.V.","year":"1958","unstructured":"Neel JV. A study of major congenital defects in Japanese infants. Am J Hum Genet 1958;10:398-445.","journal-title":"Am J Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1007\/BF02001800","article-title":"A genetic and epidemiologic study of polydactyly in human embryos in Japan","volume":"23","author":"Shiota, K.; Matsunaga, E.","year":"1978","unstructured":"Shiota K, Matsunaga E. A genetic and epidemiologic study of polydactyly in human embryos in Japan. Jpn J Hum Genet 1978;23: 173-92.","journal-title":"Jpn J Hum Genet"},{"key":"ref_6","first-page":"814","article-title":"Polydactyly","volume-title":"defects compendium","author":"Temtamy, S.A.","year":"1979","unstructured":"Temtamy SA. Polydactyly. In: Bergsma D, ed. Birth defects compendium. 2nd ed. New York, MacMillan, 1979:814.","edition":"2nd ed"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1177\/000992288702600308","article-title":"Thumb polydactyly as a part of the range of genetic expression for thenar hypoplasia","volume":"26","author":"Graham, J.M.; Brown, F.E.; Hall, B.D.","year":"1987","unstructured":"Graham JM, Brown FE, Hall BD. Thumb polydactyly as a part of the range of genetic expression for thenar hypoplasia. Clin Pediatr 1987;26:142-8.","journal-title":"Clin Pediatr"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.4.296","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:39:16Z","timestamp":1760765956000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.4.296"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,4]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1993,4,1]]},"published-print":{"date-parts":[[1993,4]]}},"alternative-id":["10.1136\/jmg.30.4.296"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.4.296","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1993,4]]}}}