| Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome. | |
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MedLine Citation:
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PMID: 20803647 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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SOX2 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 SOX2 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 SOX2 is known to interact with some of them. The role of SOX2 in dental development remains unknown, however, multiple supernumerary teeth can be considered as extraocular symptoms of SOX2 anophthalmia syndrome, rather than the coincidence of two rare diseases. |
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Authors:
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Chikahiko Numakura; Sachiko Kitanaka; Mitsuhiro Kato; Shigeo Ishikawa; Yoshioki Hamamoto; Yuriko Katsushima; Toshiyuki Kimura; Kiyoshi Hayasaka |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-30 Completed Date: 2010-12-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2355-9 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan. cnumakur@med.id.yamagata-u.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Anophthalmos
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complications,
genetics* Developmental Disabilities Humans Male Microphthalmos SOXB1 Transcription Factors / genetics* Tooth, Impacted / genetics* Tooth, Supernumerary / genetics* Young Adult |
| Chemical | |
Reg. No./Substance:
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0/SOX2 protein, human; 0/SOXB1 Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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