{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T11:27:32Z","timestamp":1782127652466,"version":"3.54.5"},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T00:00:00Z","timestamp":1376611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Swiss National Foundation","award":["310030_132940"],"award-info":[{"award-number":["310030_132940"]}]},{"DOI":"10.13039\/501100006387","name":"Leenaards Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006387","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies. Following its description in two sibs in 1982, no new cases have been observed until the observation of two unrelated cases in 2008 who were homozygous for frameshift mutations in <jats:italic>TBX15<\/jats:italic>. We investigated an adult individual with short stature, a complex craniofacial dysmorphism, malformed and rotated ears, short neck, elbow contractures, hypoacusis, and hypoplasia of scapula and pelvis on radiographs. We identified homozygosity for a novel nonsense mutation (c.841C&gt;T) in <jats:italic>TBX15<\/jats:italic> predicted to cause a premature stop (p.Arg281*) with truncation of the protein. This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of <jats:italic>TBX15<\/jats:italic>. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36173","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T17:31:16Z","timestamp":1376674276000},"page":"3161-3165","source":"Crossref","is-referenced-by-count":18,"title":["Homozygosity for a novel truncating mutation confirms <i>TBX15<\/i> deficiency as the cause of Cousin syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Esra","family":"Dikoglu","sequence":"first","affiliation":[{"name":"Division of Molecular Pediatrics Department of Pediatrics University of Lausanne, Centre Hospitalier Universitaire Vaudois Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pelin Ozlem","family":"Simsek\u2010Kiper","sequence":"additional","affiliation":[{"name":"Pediatric 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