Schrauwen, I <br/><br/>
Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome.  [electronic resource] 

 -  Clinical genetics  Sep 2014 
 - 282-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.12265  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Agenesis of Corpus Callosum--genetics<br/>Arthritis<br/>Base Sequence<br/>Collagen Diseases--genetics<br/>Connective Tissue Diseases<br/>Eye--pathology<br/>Hearing Loss, Sensorineural--genetics<br/>Hernias, Diaphragmatic, Congenital--genetics<br/>Humans<br/>Low Density Lipoprotein Receptor-Related Protein-2--genetics<br/>Magnetic Resonance Imaging<br/>Molecular Sequence Data<br/>Mutation, Missense--genetics<br/>Myopia--genetics<br/>Pedigree<br/>Phenotype<br/>Proteinuria--genetics<br/>Renal Tubular Transport, Inborn Errors--genetics<br/>Retinal Detachment<br/>Sequence Analysis, DNA