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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2003-3-31
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pubmed:databankReference |
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pubmed:abstractText |
A 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.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:CollinJ Richard OJR,
pubmed-author:FantesJudyJ,
pubmed-author:FitzPatrickDavid RDR,
pubmed-author:Howard-PeeblesPatricia NPN,
pubmed-author:LaunderSS,
pubmed-author:LynchSally-AnnSA,
pubmed-author:McGillNiolette INI,
pubmed-author:MeiselZZ,
pubmed-author:RaggeNicola KNK,
pubmed-author:WilliamsonKathyK,
pubmed-author:van HeyningenVeronicaV
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pubmed:issnType |
Print
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pubmed:volume |
33
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
461-3
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:12612584-Anophthalmos,
pubmed-meshheading:12612584-Chromosomes, Human, Pair 3,
pubmed-meshheading:12612584-Codon, Nonsense,
pubmed-meshheading:12612584-DNA Mutational Analysis,
pubmed-meshheading:12612584-DNA-Binding Proteins,
pubmed-meshheading:12612584-Databases as Topic,
pubmed-meshheading:12612584-Family Health,
pubmed-meshheading:12612584-Female,
pubmed-meshheading:12612584-Gene Deletion,
pubmed-meshheading:12612584-HMGB Proteins,
pubmed-meshheading:12612584-Heterozygote,
pubmed-meshheading:12612584-Humans,
pubmed-meshheading:12612584-Introns,
pubmed-meshheading:12612584-Male,
pubmed-meshheading:12612584-Microphthalmos,
pubmed-meshheading:12612584-Models, Genetic,
pubmed-meshheading:12612584-Molecular Sequence Data,
pubmed-meshheading:12612584-Mutation,
pubmed-meshheading:12612584-Nuclear Proteins,
pubmed-meshheading:12612584-Phenotype,
pubmed-meshheading:12612584-SOXB1 Transcription Factors,
pubmed-meshheading:12612584-Transcription Factors
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pubmed:year |
2003
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pubmed:articleTitle |
Mutations in SOX2 cause anophthalmia.
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pubmed:affiliation |
MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.
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pubmed:publicationType |
Journal Article
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