Arrigoni, Francesca I <br/><br/>
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.  [electronic resource] 

 -  European journal of human genetics : EJHG  Feb 2011 
 - 131-7 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2010.147  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>AC133 Antigen<br/>Abortion, Spontaneous--genetics<br/>Adult<br/>Aged<br/>Antigens, CD--genetics<br/>Cognition<br/>Empty Sella Syndrome--diagnostic imaging<br/>Endothelial Cells--pathology<br/>Family<br/>Female<br/>Genes, Dominant<br/>Glycoproteins--genetics<br/>Hematuria--genetics<br/>Hippocampus--diagnostic imaging<br/>Humans<br/>Kidney Diseases--genetics<br/>Macular Degeneration--genetics<br/>Magnetic Resonance Imaging<br/>Mutation, Missense<br/>Peptides--genetics<br/>Phenotype<br/>Radiography<br/>Young Adult