{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T23:52:09Z","timestamp":1767829929851,"version":"3.49.0"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,11,20]],"date-time":"2013-11-20T00:00:00Z","timestamp":1384905600000},"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":[[2014,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>The TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava) is an X\u2010linked disorder that was determined to be caused by mutations in <jats:italic>RBM10<\/jats:italic> in two families, and confirmed in a subsequent case report. The first two original families were quite similar in phenotype, with uniform early lethality although a confirmatory case report showed survival into childhood. Here we report on five affecteds from three newly recognized families, including patients with atypical manifestations. None of the five patients had talipes and others also lacked cardinal TARP features of Robin sequence and atrial septal defect. All three families demonstrated de novo mutations, and one of the families had two recurrences, with demonstrable maternal mosaicism. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36212","type":"journal-article","created":{"date-parts":[[2013,11,21]],"date-time":"2013-11-21T00:22:05Z","timestamp":1384993325000},"page":"120-128","source":"Crossref","is-referenced-by-count":33,"title":["Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism"],"prefix":"10.1002","volume":"164","author":[{"given":"Jennifer J.","family":"Johnston","sequence":"first","affiliation":[{"name":"Genetic Disease Research Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie C.","family":"Sapp","sequence":"additional","affiliation":[{"name":"Genetic Disease Research Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia","family":"Curry","sequence":"additional","affiliation":[{"name":"Genetic Medicine Central California Fresno\/University of California San Francisco Fresno, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Horton","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eyby","family":"Leon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Genetics University of Utah Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Cusmano\u2010Ozog","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Genetics Stanford University Palo Alto 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National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,11,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2011-12-7-r68"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1970.02100050178020"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34190"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22048"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21328"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.007"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.021"},{"key":"e_1_2_6_9_1","first-page":"954p","volume-title":"Smith's recognizable patterns of human malformation","author":"Jones 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