{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:58:52Z","timestamp":1789955932347,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2010,8,20]],"date-time":"2010-08-20T00:00:00Z","timestamp":1282262400000},"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":[[2010,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>SOX2<\/jats:italic> anophthalmia syndrome characteristically presents as anophthalmia or microphthalmia, with various extraocular symptoms, such as hypogonadotropic hypogonadism, brain anomaly, and esophageal abnormalities. In this report, we describe a patient with <jats:italic>SOX2<\/jats:italic> anophthalmia syndrome complicated with a dental anomaly, multiple supernumerary impacted teeth, and persistence of deciduous teeth. Multiple supernumerary teeth are usually not solitary symptoms, but indicate systemic syndrome such as cleidocranial dysplasia. In odontogenesis, many transcriptional factors, such as BMPs, FGFs, and Wnts, play significant roles and <jats:italic>SOX2<\/jats:italic> is known to interact with some of them. The role of <jats:italic>SOX2<\/jats:italic> in dental development remains unknown, however, multiple supernumerary teeth can be considered as extraocular symptoms of <jats:italic>SOX2<\/jats:italic> anophthalmia syndrome, rather than the coincidence of two rare diseases. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33556","type":"journal-article","created":{"date-parts":[[2010,9,4]],"date-time":"2010-09-04T04:09:52Z","timestamp":1283573392000},"page":"2355-2359","source":"Crossref","is-referenced-by-count":32,"title":["Supernumerary impacted teeth in a patient with <i>SOX2<\/i> anophthalmia syndrome"],"prefix":"10.1002","volume":"152A","author":[{"given":"Chikahiko","family":"Numakura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachiko","family":"Kitanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeo","family":"Ishikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshioki","family":"Hamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuriko","family":"Katsushima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Kimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoshi","family":"Hayasaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,8,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1259\/dmfr\/21956432"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(02)00167-3"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/477"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1120"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/346245a0"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30803"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joms.2007.08.028"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(81)90164-X"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11102-007-0055-5"},{"key":"e_1_2_7_11_1","first-page":"2442","article-title":"Mutations 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