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• W2141420688 abstract "American Journal of Medical Genetics Part AVolume 152A, Issue 5 p. 1310-1313 Research Letter Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies†‡ Preeti Bakrania, Preeti Bakrania Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK PB is now based at Centre for Therapeutics Discovery, MRC Technology, London, UK.Search for more papers by this authorSibel A. Ugur Iseri, Sibel A. Ugur Iseri Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UKSearch for more papers by this authorAlexander W. Wyatt, Alexander W. Wyatt Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UKSearch for more papers by this authorDave J. Bunyan, Dave J. Bunyan Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UKSearch for more papers by this authorWayne W.K. Lam, Wayne W.K. Lam Department of Clinical Genetics, Western General Hospital, Edinburgh, UKSearch for more papers by this authorAlison Salt, Alison Salt Department of Paediatrics, Moorfields Eye Hospital, London, UK Wolfson Neurodisability Service, Great Ormond St. Hospital, London, UKSearch for more papers by this authorJacqueline Ramsay, Jacqueline Ramsay Medical Genetics Section, MRC Human Genetics Unit, Western General Hospital, Edinburgh, UKSearch for more papers by this authorDavid O. Robinson, David O. Robinson Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK Human Genetics Division, Southampton University School of Medicine, Southampton, UKSearch for more papers by this authorNicola K. Ragge, Corresponding Author Nicola K. Ragge [email protected] Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK Department of Adnexal Surgery, Moorfields Eye Hospital, London, UK Department of Ophthalmology, Birmingham Children's Hospital, Birmingham, UKDepartment of Physiology, Anatomy and Genetics, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK.Search for more papers by this author Preeti Bakrania, Preeti Bakrania Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK PB is now based at Centre for Therapeutics Discovery, MRC Technology, London, UK.Search for more papers by this authorSibel A. Ugur Iseri, Sibel A. Ugur Iseri Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UKSearch for more papers by this authorAlexander W. Wyatt, Alexander W. Wyatt Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UKSearch for more papers by this authorDave J. Bunyan, Dave J. Bunyan Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UKSearch for more papers by this authorWayne W.K. Lam, Wayne W.K. Lam Department of Clinical Genetics, Western General Hospital, Edinburgh, UKSearch for more papers by this authorAlison Salt, Alison Salt Department of Paediatrics, Moorfields Eye Hospital, London, UK Wolfson Neurodisability Service, Great Ormond St. Hospital, London, UKSearch for more papers by this authorJacqueline Ramsay, Jacqueline Ramsay Medical Genetics Section, MRC Human Genetics Unit, Western General Hospital, Edinburgh, UKSearch for more papers by this authorDavid O. Robinson, David O. Robinson Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK Human Genetics Division, Southampton University School of Medicine, Southampton, UKSearch for more papers by this authorNicola K. Ragge, Corresponding Author Nicola K. Ragge [email protected] Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK Department of Adnexal Surgery, Moorfields Eye Hospital, London, UK Department of Ophthalmology, Birmingham Children's Hospital, Birmingham, UKDepartment of Physiology, Anatomy and Genetics, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX, UK.Search for more papers by this author First published: 13 April 2010 https://doi.org/10.1002/ajmg.a.33239Citations: 26 † Preeti Bakrania and Sibel A. Ugur Iseri contributed equally to this work. ‡ How to cite this article: Bakrania P, Ugur Iseri SA, Wyatt AW, Bunyan DJ, Lam WWK, Salt A, Ramsay J, Robinson DO, Ragge NK. 2010. Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies. Am J Med Genet Part A 152A:1310–1313. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES 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. 2008. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: Overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 82: 304–319. 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Extreme variability of expression of a sonic hedgehog mutation: Attention difficulties and holoprosencephaly. Arch Dis Child 86: 293–296. Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domene S, Velez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M. 2009. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: Correlation between genotype, phenotype and function. J Med Genet 46: 389–398. Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, Goode D, Elgar G, Hill RE, de Graaff E. 2003. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet 12: 1725–1735. Ma G, Xiao Y, He L. 2008. Recent progress in the study of hedgehog signaling. J Genet Genomics 35: 129–137. Ming JE, Muenke M. 2002. Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly. Am J Hum Genet 71: 1017–1032. Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M. 1999. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet 8: 2479–2488. Nanni L, Ming JE, Du Y, Hall RK, Aldred M, Bankier A, Muenke M. 2001. SHH mutation is associated with solitary median maxillary central incisor: A study of 13 patients and review of the literature. Am J Med Genet 102: 1–10. Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M. 1997. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet 6: 1847–1853. Schell-Apacik CC, Ertl-Wagner B, Panzel A, Klausener K, Rausch G, Muenke M, von Voss H, Hehr U. 2009. Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum. Am J Med Genet Part A 149A: 1592–1594. Schimmenti LA, de la Cruz J, Lewis RA, Karkera JD, Manligas GS, Roessler E, Muenke M. 2003. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet Part A 116A: 215–221. Simpson F, Kerr MC, Wicking C. 2009. Trafficking, development and hedgehog. Mech Dev 126: 279–288. Traiffort E, Dubourg C, Faure H, Rognan D, Odent S, Durou MR, David V, Ruat M. 2004. Functional characterization of sonic hedgehog mutations associated with holoprosencephaly. J Biol Chem 279: 42889–42897. Citing Literature Volume152A, Issue5May 2010Pages 1310-1313 ReferencesRelatedInformation" @default.
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