Marques-Pinheiro, Alice <br/><br/>
Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome.  [electronic resource] 

 -  Joint bone spine  Mar 2010 
 - 151-3 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1778-7254 
<br/><br/><label>Standard No.: </label>10.1016/j.jbspin.2009.11.013  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Blindness--genetics<br/>Bone Density--genetics<br/>Fractures, Bone--genetics<br/>Frameshift Mutation<br/>Humans<br/>LDL-Receptor Related Proteins--genetics<br/>Low Density Lipoprotein Receptor-Related Protein-5<br/>Male<br/>Osteoporosis--genetics<br/>Sequence Analysis, DNA<br/>Syndrome<br/>Young Adult