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Journal home Advance online publication Current issue Archive Press releases Free Association (blog) Supplements Focuses Guide to authors Online submission For referees Free online issue Contact the journal Subscribe Advertising work@npg Reprints and permissions About this site For librarians   NPG Resources Nature Nature Biotechnology Nature Cell Biology Nature Medicine Nature Methods Nature Reviews Cancer Nature Reviews Genetics Nature Reviews Molecular Cell Biology news@nature.com Nature Conferences RNAi Gateway NPG Subject areas Biotechnology Cancer Chemistry Clinical Medicine Dentistry Development Drug Discovery Earth Sciences Evolution & Ecology Genetics Immunology Materials Science Medical Research Microbiology Molecular Cell Biology Neuroscience Pharmacology Physics Browse all publications Brief Communication Nature Genetics  33, 462 - 463 (2003) Published online: 3 March 2003; | doi:10.1038/ng1120 Mutations in SOX2 cause anophthalmia Judy Fantes1, Nicola K. Ragge2, 3, Sally-Ann Lynch4, Niolette I. McGill1, J. Richard O. Collin3, Patricia N. Howard-Peebles5, Caroline Hayward1, Anthony J. Vivian6, Kathy Williamson1, Veronica van Heyningen1 & David R. FitzPatrick1 1  MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK. 2  Ophthalmology Department, St. Thomas' Hospital, London, UK. 3  Adnexal Service, Moorfields Eye Hospital, London, UK. 4  Institute for Human Genetics, Newcastle-upon-Tyne, UK. 5  Genetics and IVF Institute, Fairfax, Virginia, USA. 6  Ophthalmic Departments, West Suffolk Hospital, Bury St. Edmunds and Addenbrooke's Hospital, Cambridge, UK. Correspondence should be addressed to David R. FitzPatrick david.fitzpatrick@hgu.mrc.ac.ukA submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations of SOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes were affected in all cases with an identified mutation. MORE ARTICLES LIKE THIS These links to content published by NPG are automatically generated RESEARCH Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region European Journal of Human Genetics Original Article (28 Nov 2002)  Top Abstract Previous | Next Table of contents Full text Download PDF Send to a friend Save this link Open Innovation Challenges Single-cell Analysis Platform Deadline: Dec 02 2009 Reward: $5,000 USD This Challenge is looking for novel approaches to analyzing changes at a single-cell level. This is... Methods of Modeling Adaptation in Populations Deadline: Dec 30 2009 Reward: $15,000 USD The analysis of adaptation with a population is a frequently encountered computational modeling scen... More Challenges Powered by: nature jobs One Postdoctoral Position at Centre for Research in Agricultural Genomics The Centre for Research Agricultural Genomics Consorcio CSIC-IRTA-UAB Barcelona Spain Group Leader Positions IMP Vienna Austria More science jobs Post a job for free Figures & Tables Supplementary info See also: News and Views by Hall Export citation Search buyers guide:   ADVERTISEMENT

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