{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:30:20Z","timestamp":1791268220515,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2008,1,17]],"date-time":"2008-01-17T00:00:00Z","timestamp":1200528000000},"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":[[2008,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The distal\u2010less homeobox gene <jats:italic>DLX3<\/jats:italic> is expressed in a variety of tissues including placenta, skin, hair, teeth, and bone. Mutation of <jats:italic>DLX3<\/jats:italic> (c.571_574delGGGG) causes the tricho\u2010dento\u2010osseous syndrome (TDO), characterized by abnormal hair, teeth, and bone. Evaluation of a kindred segregating the <jats:italic>DLX3<\/jats:italic> c.561_562delCT mutation revealed distinct changes in the hair, teeth, and bones as has been observed with the <jats:italic>DLX3<\/jats:italic> c.571_574delGGGG mutation. Previously, the <jats:italic>DLX3<\/jats:italic> c.561_562delCT mutation was associated with autosomal dominant amelogenesis imperfecta with taurodontism. The present study shows that the <jats:italic>DLX3<\/jats:italic> c.560_561delCT mutation causes an attenuated TDO phenotype with less severe hair, tooth, and bone manifestations compared with individuals having the <jats:italic>DLX3<\/jats:italic> c.571_574delGGGG mutation. Careful phenotyping of individuals with allelic <jats:italic>DLX3<\/jats:italic> mutations reveals marked differences in phenotypic severity indicating that the carboxy\u2010terminus of the DLX3 protein is critical in determining its function during development in these different tissues. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32132","type":"journal-article","created":{"date-parts":[[2008,1,18]],"date-time":"2008-01-18T00:21:21Z","timestamp":1200615681000},"page":"343-349","source":"Crossref","is-referenced-by-count":64,"title":["<i>DLX3<\/i> c.561_562delCT mutation causes attenuated phenotype of tricho\u2010dento\u2010osseous syndrome"],"prefix":"10.1002","volume":"146A","author":[{"given":"J. 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