{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T22:34:17Z","timestamp":1723242857796},"reference-count":4,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,1,13]],"date-time":"2003-01-13T00:00:00Z","timestamp":1042416000000},"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":[[2003,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Robin sequence is a well\u2010known cause of cleft palate and can be sporadic or familial, isolated or syndromic. We present a four\u2010generation family with a lethal disorder inherited in an X\u2010linked recessive pattern that includes Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava. We have designated this disorder \u201cTARP\u201d syndrome. All affected males die in infancy of unknown causes. An X\u2010chromosome linkage scan was performed using 14 unaffected members of a single large family and 40 STRP markers. The gene was mapped to an 11\u2010cM region in Xp11.23\u2010q13.3. Markers DXS1003 and DXS8092 flank the region and three\u2010point linkage analyses revealed a maximum LOD score of 2.75 at marker DXS1039. We have designated this locus as <jats:italic>TARP<\/jats:italic>. This locus was mapped without genotyping any affecteds and demonstrates that rare, lethal disorders can be evaluated by genetic linkage, even when no affected probands are available for study. Published 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10201","type":"journal-article","created":{"date-parts":[[2003,6,4]],"date-time":"2003-06-04T10:07:08Z","timestamp":1054721228000},"page":"1-4","source":"Crossref","is-referenced-by-count":15,"title":["Designation of the TARP syndrome and linkage to Xp11.23\u2010q13.3 without samples from affected patients"],"prefix":"10.1002","volume":"120A","author":[{"given":"Kyle T.","family":"Kurpinski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia A.","family":"Magyari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Gorlin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Ng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie G.","family":"Biesecker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,1,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1970.02100050178020"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng917"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000154222"}],"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.10201","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10201","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T21:39:20Z","timestamp":1700170760000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10201"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,1,13]]},"references-count":4,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,7]]}},"alternative-id":["10.1002\/ajmg.a.10201"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10201","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,1,13]]}}}