Ragge, Nicola K <br/><br/>
Heterozygous mutations of OTX2 cause severe ocular malformations.  [electronic resource] 

 -  American journal of human genetics  Jun 2005 
 - 1008-22 p.  digital 
<br/><br/> Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/430721  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Motifs<br/>Amino Acid Sequence<br/>Animals<br/>Anophthalmos--genetics<br/>Brain--diagnostic imaging<br/>Chromosome Mapping<br/>DNA Mutational Analysis<br/>Eye Abnormalities--genetics<br/>Female<br/>Gene Expression Regulation, Developmental<br/>Genes, Homeobox<br/>Genetic Variation<br/>Heterozygote<br/>Homeodomain Proteins--chemistry<br/>Humans<br/>Magnetic Resonance Imaging<br/>Male<br/>Mice<br/>Models, Genetic<br/>Mosaicism<br/>Mutation<br/>Open Reading Frames<br/>Otx Transcription Factors<br/>Pedigree<br/>Penetrance<br/>Protein Structure, Tertiary<br/>Radiography<br/>Sequence Analysis, DNA