Aliferis, Konstantinos <br/><br/>
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.  [electronic resource] 

 -  Ophthalmic genetics  Nov 2011 
 - 250-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1744-5094 
<br/><br/><label>Standard No.: </label>10.3109/13816810.2011.592176  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Branchio-Oto-Renal Syndrome--diagnosis<br/>Choroid--abnormalities<br/>Coloboma--genetics<br/>Female<br/>Frameshift Mutation<br/>Genotype<br/>Humans<br/>Male<br/>Microphthalmos--genetics<br/>Middle Aged<br/>Phenotype<br/>Retina--abnormalities<br/>Transcription Factor AP-2--genetics<br/>Young Adult