{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T21:40:10Z","timestamp":1791322810525,"version":"4.3.1"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"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":[[2015,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Latent TGFB\u2010binding protein 3 (LTBP3) is known to increase bio\u2010availability of TGFB. A homozygous mutation in this gene has previously been associated with oligodontia and short stature in a single family. We report on two sisters with homozygous truncating mutations in LTBP3. In addition to oligodontia and short stature, both sisters have mitral valve prolapse, suggesting a link between truncating LTBP3 mutations and mitral valve disease mediated through the TGFB pathway. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37049","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:52:04Z","timestamp":1429674724000},"page":"1396-1399","source":"Crossref","is-referenced-by-count":29,"title":["New recessive truncating mutation in <i>LTBP3<\/i> in a family with oligodontia, short stature, and mitral valve prolapse"],"prefix":"10.1002","volume":"167","author":[{"given":"Sarah L.","family":"Dugan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Children's Hospitals and Clinics of Minnesota Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renee T.","family":"Temme","sequence":"additional","affiliation":[{"name":"Department of Medical 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