Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
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Ocular features |
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Systemic features | Main features:
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | OcularSystemic
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Therapies under research |
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Further information |
References
- Bardakjian TM, Schneider A. Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry. Am J Med Genet A. 2005;132A(1):54‐56
- Bylund M, Andersson E, Novitch BG, Muhr J. Vertebrate neurogenesis is counteracted by Sox1-3 activity. Nat Neurosci. 2003;6(11):1162‐1168
- Masui S, Nakatake Y, Toyooka Y, et al. Pluripotency governed by Sox2 via regulation of Oct3/4 expression in mouse embryonic stem cells. Nat Cell Biol. 2007;9(6):625‐635
- Morini F, Pacilli M, Spitz L. Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. Am J Med Genet A. 2005;132A(1):60‐62
- Numakura C, Kitanaka S, Kato M, et al. Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome. Am J Med Genet A. 2010;152A(9):2355‐2359
- Pedace L, Castori M, Binni F, et al. A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies. Eur J Med Genet. 2009;52(4):273‐276