Das Branchio-okulo-faziales Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im TFAP2A-Gen hervorgerufen wird. Typisch für die Erkrankungen sind Gesichtsfehlbildungen und Stabismus.
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Gestri G et al. (2009) Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. |
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OMIM.ORG article Omim 113620 |
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Orphanet article Orphanet ID 1297 |