{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:34:31Z","timestamp":1787726071504,"version":"build-2784847793"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,3,24]],"date-time":"2014-03-24T00:00:00Z","timestamp":1395619200000},"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":[[2014,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Pectus carinatum and excavatum have multiple genetic associations. We report on a novel association of these deformities in a 34\u2010month\u2010old male and his father, likely due to a small intragenic deletion of <jats:italic>MNAT1<\/jats:italic> (m\u00e9nage a trois 1 gene). Both individuals share a deletion of <jats:italic>MNAT1<\/jats:italic> located at 14q23.1 and an interstitial duplication of <jats:italic>CHRNA7<\/jats:italic> located at 15q13.3. Deletion of <jats:italic>MNAT1<\/jats:italic> has been associated with connective tissue abnormalities and is likely the etiology of the malformations, whereas the duplication of <jats:italic>CHNRA7<\/jats:italic> is unlikely related due to the lack of association with any such connective tissue abnormalities. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36445","type":"journal-article","created":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T02:51:49Z","timestamp":1395715909000},"page":"1293-1297","source":"Crossref","is-referenced-by-count":4,"title":["An intragenic deletion of the gene <i>MNAT1<\/i> in a family with pectus deformities"],"prefix":"10.1002","volume":"164","author":[{"given":"Jennifer L.","family":"Heithaus","sequence":"first","affiliation":[{"name":"Department of Pediatrics Genetics Division Saint Louis University School of Medicine St. Louis 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