{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T01:16:41Z","timestamp":1791335801048,"version":"4.3.1"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,4,3]],"date-time":"2014-04-03T00:00:00Z","timestamp":1396483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH\/NIDCR Awards","award":["R03DE019554-01"],"award-info":[{"award-number":["R03DE019554-01"]}]},{"name":"NIH\/NIDCR Awards","award":["R01DE019471-01"],"award-info":[{"award-number":["R01DE019471-01"]}]},{"name":"NIH\/NIDCR Awards","award":["R01DE019471-02"],"award-info":[{"award-number":["R01DE019471-02"]}]},{"name":"University of Pittsburgh School of Dental Medicine"},{"name":"NIH","award":["UL1 RR024153"],"award-info":[{"award-number":["UL1 RR024153"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mutations in the <jats:italic>WNT10A<\/jats:italic> gene were first detected in the rare syndrome odonto\u2010onycho\u2010dermal dysplasia (OODD, OMIM257980) but have now also been found to cause about 35\u201350% of selective tooth agenesis (STHAG4, OMIM150400), a common disorder that mostly affects the permanent dentition. In our random sample of tooth agenesis patients, 40% had at least one mutation in the <jats:italic>WNT10A<\/jats:italic> gene. The <jats:italic>WNT10A<\/jats:italic> Phe228Ile variant alone reached an allele frequency of 0.21 in the tooth agenesis cohort, about 10 times higher than the allele frequency reported in large SNP databases for Caucasian populations. Patients with bi\u2010allelic <jats:italic>WNT10A<\/jats:italic> mutations have severe tooth agenesis while heterozygous individuals are either unaffected or have a mild phenotype. Mutations in the coding areas of the <jats:italic>WNT10B<\/jats:italic> gene, which is co\u2010expressed with <jats:italic>WNT10A<\/jats:italic> during odontogenesis, and the <jats:italic>WNT6<\/jats:italic> gene which is located at the same chromosomal locus as <jats:italic>WNT10A<\/jats:italic> in humans, do not contribute to the tooth agenesis phenotype. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36520","type":"journal-article","created":{"date-parts":[[2014,4,3]],"date-time":"2014-04-03T20:27:21Z","timestamp":1396556841000},"page":"2455-2460","source":"Crossref","is-referenced-by-count":50,"title":["The WNT10A gene in ectodermal dysplasias and selective tooth agenesis"],"prefix":"10.1002","volume":"164","author":[{"given":"Gabriele","family":"Mues","sequence":"first","affiliation":[{"name":"Department of Biomedical Sciences Texas A&amp;M University\u2010HSC Baylor College of Dentistry Dallas 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