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Paper Details

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
Hum Genet
59
2009
BOFS, TFAP2A, TFAP2A four amino acid deletion, TFAP2A gene, TFAP2A2, amino acid, anophthalmia, bmp4, branchio-oculo-facial syndrome, coloboma, developmental defects, ectodermal and renal anomalies, four amino acid deletion, human, mouse, mouse embryos--sites, ocular anomalies, optic fissure, patients, rare dominant disorder, retinal defects, tcf7l1a, tcf7l1a mutations, tfap2a, tfap2a mutations, transcription factor, transcription factor encoding TFAP2A gene, zebrafish

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Release 1.2