Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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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
- Bragança J, Eloranta JJ, Bamforth SD, Ibbitt JC, Hurst HC, Bhattacharya S. Physical and functional interactions among AP-2 transcription factors, p300/CREB-binding protein, and CITED2. J Biol Chem. 2003;278(18):16021‐16029
- Lee WK, Root AW, Fenske N. Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission. Am J Med Genet. 1982;11(3):345‐352
- Mazzone D, Milana A, Carpinato C. Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis. Eur J Pediatr. 1992;151(4):312
- Tekin M, Sirmaci A, Yüksel-Konuk B, Fitoz S, Sennaroğlu L. A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. Am J Med Genet A. 2009;149A(3):427‐430
- Lin AE, Haldeman-Englert CR, Milunsky JM. Branchiooculofacial Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993