Yoshimura, Keiko <br/><br/>
De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome.  [electronic resource] 

 -  American journal of ophthalmology  Apr 2005 
 - 733-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0002-9394 
<br/><br/><label>Standard No.: </label>10.1016/j.ajo.2004.10.002  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Child, Preschool<br/>Coloboma--genetics<br/>DNA Mutational Analysis<br/>DNA-Binding Proteins--genetics<br/>Exons--genetics<br/>Female<br/>Humans<br/>Kidney--abnormalities<br/>Mutation, Missense<br/>Optic Disk--abnormalities<br/>Optic Nerve--abnormalities<br/>PAX2 Transcription Factor<br/>Syndrome<br/>Transcription Factors--genetics<br/>Ultrasonography