Lin, Phoebe <br/><br/>
Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.  [electronic resource] 

 -  Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus  Feb 2010 
 - 93-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1528-3933 
<br/><br/><label>Standard No.: </label>10.1016/j.jaapos.2009.11.012  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Eye Diseases--genetics<br/>Eye Proteins--genetics<br/>Family Health<br/>Humans<br/>Infant<br/>Macula Lutea--blood supply<br/>Male<br/>Nerve Tissue Proteins--genetics<br/>Phenotype<br/>Point Mutation<br/>Retinal Vessels--abnormalities