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Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.
Gestri G, Osborne RJ, Wyatt AW, Gerrelli D, Gribble S, Stewart H, Fryer A, Bunyan DJ, Prescott K, Collin JR, Fitzgerald T, Robinson D, Carter NP, Wilson SW, Ragge NK. Gestri G, et al. Among authors: osborne rj. Hum Genet. 2009 Dec;126(6):791-803. doi: 10.1007/s00439-009-0730-x. Hum Genet. 2009. PMID: 19685247 Free PMC article.
RNA-dominant diseases.
Osborne RJ, Thornton CA. Osborne RJ, et al. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R162-9. doi: 10.1093/hmg/ddl181. Hum Mol Genet. 2006. PMID: 16987879 Review.
65 results