{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,24]],"date-time":"2025-05-24T22:22:14Z","timestamp":1748125334593},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,7,29]],"date-time":"2005-07-29T00:00:00Z","timestamp":1122595200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,8,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a father and a son with nasal and limb defects characteristic of Laurin\u2013Sandrow syndrome (LSS) excluding for the first time X\u2010linked inheritance in this rare condition. Based on a search for genes expressed late during nose formation and early in limb formation we identified retinoic acid receptor B (<jats:italic>RARB<\/jats:italic>) and retinoic acid receptor G (<jats:italic>RARG<\/jats:italic>) as possible candidate genes and sequenced bidirectionally including all exons and intron\u2013exon bounders. We identified a single nucleotide substitution in intron 2 of <jats:italic>RARB<\/jats:italic>, which is conserved in human, chimp, dog, mouse, rat, and chicken. However, it was located 83 bp from exon 2, suggesting it is a rare polymorphism which does not account for the phenotype. No other mutations were found. This suggests that another yet unknown gene is responsible for the condition. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30820","type":"journal-article","created":{"date-parts":[[2005,7,29]],"date-time":"2005-07-29T23:47:11Z","timestamp":1122680831000},"page":"148-152","source":"Crossref","is-referenced-by-count":6,"title":["Male\u2010to\u2010male transmission in Laurin\u2013Sandrow syndrome and exclusion of <i>RARB<\/i> and <i>RARG<\/i>"],"prefix":"10.1002","volume":"137A","author":[{"given":"Klaus W.","family":"Kjaer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"Eiberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Knud Stenild","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Tommerup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,7,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90524-X"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2336223100"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.5.426"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30296"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010122)98:3<210::AID-AJMG1085>3.0.CO;2-7"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90202-3"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460204"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-196446010-00014"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg180"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0016672300034194"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460205"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.5.410"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1054\/bjps.1999.3226"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-197052020-00021"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01129"},{"key":"e_1_2_6_18_1","first-page":"923","article-title":"Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome","volume":"58","author":"Slaney SF","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200211117"},{"key":"e_1_2_6_20_1","doi-asserted-by":"crossref","first-page":"3123","DOI":"10.1242\/dev.125.16.3123","article-title":"Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian hedgehog signalling","volume":"125","author":"Yang Y","year":"1998","journal-title":"Development"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30820","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30820","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:51:49Z","timestamp":1697640709000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30820"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,7,29]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,8,30]]}},"alternative-id":["10.1002\/ajmg.a.30820"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30820","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,7,29]]}}}