{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:50:18Z","timestamp":1790419818499,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T00:00:00Z","timestamp":1390435200000},"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":[[2014,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on three novel (IVS2+1G&gt;A splice site, c.1066G&gt;T, and c.1039G&gt;T, and one previously reported (c.637G&gt;A) <jats:italic>WNT10A<\/jats:italic> mutations in three patients affected with odonto\u2010onycho\u2010dermal dysplasia (OODD; OMIM 275980). OODD is a rare form of autosomal recessive ectodermal dysplasia involving hair, teeth, nails, and skin, characterized by hypodontia (tooth agenesis), smooth tongue with marked reduction of filiform and fungiform papillae, nail dysplasia, dry skin, palmoplantar keratoderma, and hyperhidrosis of palms and soles. The novel IVS+1G&gt;A splice site mutation is predicted to cause significant protein alteration. The other novel mutations we found including c.1066G&gt;T and c.1039G&gt;T are predicted to cause p.Gly356Cys and p.Glu347X, respectively. Barrel\u2010shaped mandibular incisors and severe hypodontia appear to be associated with homozygous or compound heterozygous mutations of <jats:italic>WNT10A<\/jats:italic>. The name \u201ctricho\u2010odonto\u2010onycho\u2010dermal dysplasia\u201d is suggested to replace \u201codonto\u2010onycho\u2010dermal dysplasia\u201d because hair anomalies including hypotrichosis and slow\u2010growing hair have been reported in numerous reported patients with this syndrome. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36388","type":"journal-article","created":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T23:45:48Z","timestamp":1390520748000},"page":"1041-1048","source":"Crossref","is-referenced-by-count":33,"title":["Tricho\u2010odonto\u2010onycho\u2010dermal dysplasia and <i>WNT10A<\/i> mutations"],"prefix":"10.1002","volume":"164","author":[{"given":"P.","family":"Kantaputra","sequence":"first","affiliation":[{"name":"Division of Pediatric Dentistry Department of Orthodontics and Pediatric Dentistry Faculty of Dentistry Chiang Mai University Chiang Mai Thailand"},{"name":"Craniofacial Genetics Laboratory Faculty of 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