Shimasaki, N <br/><br/>
EYA1 mutation in a newborn female presenting with cardiofacial syndrome.  [electronic resource] 

 -  Pediatric cardiology   
 - 411-3 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0172-0643 
<br/><br/><label>Standard No.: </label>10.1007/s00246-003-0271-3  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Branchio-Oto-Renal Syndrome--genetics<br/>DNA Mutational Analysis<br/>Diagnosis, Differential<br/>Facial Asymmetry--congenital<br/>Female<br/>Heart Defects, Congenital--genetics<br/>Humans<br/>Infant, Newborn<br/>Intracellular Signaling Peptides and Proteins<br/>Nuclear Proteins<br/>Phenotype<br/>Point Mutation--genetics<br/>Protein Tyrosine Phosphatases<br/>Sequence Deletion--genetics<br/>Trans-Activators--genetics