{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:07:21Z","timestamp":1791115641059,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6486,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Linkage studies with RFLPs were performed in a large family in which the Wieacker\u2010Wolff syndrome is segregating. In this new syndrome (McKusick, 1986, No.31458) patients have congenital contractures, progressive neuropathic muscle atrophy, involving also some cranial nerves with oculomotor apraxia and dyspraxia of the face and tongue muscles, and mental retardation. This is an X\u2010linked recessive syndrome. We found close linkage between the syndrome locus and the DNA segment DXYS1 (\u1e91=3.225 at <jats:styled-content>\\documentclass{article}\\pagestyle{empty}\\begin{document}$ \\mathord{\\buildrel{\\lower3pt\\hbox{$\\scriptscriptstyle\\frown$}} \\over \\Theta } = 0.0 $\\end{document}<jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/tex2gif-ueqn-1.gif\" xlink:title=\"equation image\"\/><\/jats:styled-content> =0.0) in proximal Xq.<\/jats:p>","DOI":"10.1002\/ajmg.1320280137","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:58:59Z","timestamp":1118545139000},"page":"245-253","source":"Crossref","is-referenced-by-count":22,"title":["Close linkage of the Wieacker\u2010Wolff syndrome to the DNA segment DXYS1 in proximal Xq"],"prefix":"10.1002","volume":"28","author":[{"given":"Peter","family":"Wieacker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerhard","family":"Wolff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas F.","family":"Wienker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"546","article-title":"A strategy to reveal high\u2010frequency RFLPs along the human X chromosome","volume":"36","author":"Aldridge J","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","first-page":"179","article-title":"A linkage study using DNA markers localizes the gene for X\u2010linked dominant Charcot\u2010Marie\u2010Tooth disease at Xql3 \u2010Xq22. Human Gene Mapping 8","volume":"40","author":"Beckett J","year":"1985","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.4059909"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00389456"},{"key":"e_1_2_1_6_1","volume-title":"\u201cMendelian Inheritance in Man\u201d. Catalogs of autosomal dominant, autosomal recessive, and X\u2010linked pheno\u2010types","author":"McKusick V","year":"1986"},{"key":"e_1_2_1_7_1","first-page":"588","article-title":"Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies","volume":"26","author":"Ott J","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.79.17.5352"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230103"},{"key":"e_1_2_1_10_1","first-page":"285","article-title":"Towards a complete linkage map of the human X chromosome: Regional assignment of 16 cloned single\u2010copy DNA sequences employing a panel of somatic cell hybrids","volume":"36","author":"Wieacker P","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","volume-title":"Praktikum der Humangenetik","author":"Wieacker P","year":"1985"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200405"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320280137","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320280137","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T03:59:26Z","timestamp":1697860766000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320280137"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,9]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1987,9]]}},"alternative-id":["10.1002\/ajmg.1320280137"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320280137","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,9]]}}}