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    Results: 3

    1.

    Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.

    Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N.

    Hum Mutat. 2008 Nov;29(11):E278-83.PMID: 18781617 [PubMed - indexed for MEDLINE]Related articles

    2.

    Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

    Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK.

    Am J Hum Genet. 2008 Feb;82(2):304-19. Epub 2008 Jan 31.PMID: 18252212 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

    Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK.

    Br J Ophthalmol. 2007 Nov;91(11):1471-6. Epub 2007 May 23.PMID: 17522144 [PubMed - indexed for MEDLINE]Related articles

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