{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T05:51:40Z","timestamp":1698213100348},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5968,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two sisters and their brother, all of whom are affected by McKusick\u2010Kaufman syndrome. This sibship confirms autosomal recessive inheritance and the occurrence of the syndrome in Melanesians. It also demonstrates multisystem involvement in both sexes and illustrates difficulties in the diagnosis and management of hydrocolpos.<\/jats:p>","DOI":"10.1002\/ajmg.1320320206","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:54:16Z","timestamp":1118544856000},"page":"174-177","source":"Crossref","is-referenced-by-count":9,"title":["McKusick\u2010Kaufman syndrome: Report of an instructive family"],"prefix":"10.1002","volume":"32","author":[{"given":"John D.","family":"Vince","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole J.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"3","article-title":"Syndrome de McKusick\u2010Kaufman, chez un nouveau\u2010ne de sexe feminin","volume":"39","author":"Castel Y","year":"1982","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_1_3_1","first-page":"1133","article-title":"Further delineation of the McKusick\u2010Kaufman hydrometrocolpos\u2014polydactyly syndrome","volume":"141","author":"Chitayat D","year":"1987","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250202"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320080405"},{"key":"e_1_2_1_6_1","first-page":"71","article-title":"Clinical aspects, diagnosis and treatment of the Kaufman syndrome (hydrocolpos, hypospadias, polydactyly)","volume":"17","author":"Hofmann U","year":"1984","journal-title":"Prog Paediatr Surg"},{"key":"e_1_2_1_7_1","volume-title":"Dysmorphology","author":"Jabs EW","year":"1982"},{"issue":"3","key":"e_1_2_1_7_2","first-page":"161","author":"National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_8_1","volume-title":"The Cardiovascular System","author":"Kaufman RL","year":"1972"},{"issue":"5","key":"e_1_2_1_8_2","first-page":"85","author":"National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320080404"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1964.03070110015003"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1001\/jama.1968.03140150017004","article-title":"Recessive Inheritance of a congenital malformation syndrome","volume":"204","author":"McKusick VA","year":"1968","journal-title":"JAMA"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(84)80092-5"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140424"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80155-9"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000658-196204000-00013"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320320206","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320320206","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T02:47:55Z","timestamp":1697942875000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320320206"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,2]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1989,2]]}},"alternative-id":["10.1002\/ajmg.1320320206"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320320206","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,2]]}}}