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Ragge, Nicola K. ; Lorenz, Birgit ; Schneider, Adele ; Bushby, Kate ; de Sanctis, Luisa ; de Sanctis, Ugo ; Salt, Alison ; Collin, J. Richard O. ; Vivian, Anthony J. ; Free, Samantha L. ; Thompson, Pamela ; Williamson, Kathleen A. ; Sisodiya, Sanjay M. ; van Heyningen, Veronica ; FitzPatrick, David R.

SOX2 anophthalmia syndrome

Ragge, Nicola K., Lorenz, Birgit, Schneider, Adele, Bushby, Kate, de Sanctis, Luisa, de Sanctis, Ugo, Salt, Alison, Collin, J. Richard O., Vivian, Anthony J., Free, Samantha L., Thompson, Pamela, Williamson, Kathleen A., Sisodiya, Sanjay M., van Heyningen, Veronica and FitzPatrick, David R. (2005) SOX2 anophthalmia syndrome. American Journal of Medical Genetics Part A 135A (1), pp. 1-7.

Date of publication of this fulltext: 19 Dec 2024 15:02
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Item typeArticle
Journal or Publication TitleAmerican Journal of Medical Genetics Part A
Publisher:WILEY-BLACKWELL
Place of Publication:HOBOKEN
Volume:135A
Number of Issue or Book Chapter:1
Page Range:pp. 1-7
Date2005
InstitutionsMedicine > Lehrstuhl für Augenheilkunde
Identification Number
ValueType
10.1002/ajmg.a.30642DOI
KeywordsHOMEOBOX GENE; MICROPHTHALMIA; MUTATIONS; MALFORMATIONS; EXPRESSION; ANOMALIES; COLOBOMA; FAMILY; EYE; SOX2; anophthalmia; microphthalmia; brain malformation; microgenitalia; developmental delay; seizures
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID70734

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