Al-Kindi, Adila <br/><br/>
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.  [electronic resource] 

 -  BMC medical genetics  Apr 2014 
 - 42 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/1471-2350-15-42  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Blotting, Western<br/>DNA Primers--genetics<br/>Discoidin Domain Receptors<br/>Dwarfism--diagnostic imaging<br/>Humans<br/>Immunohistochemistry<br/>Microscopy, Confocal<br/>Molecular Sequence Data<br/>Mutation, Missense--genetics<br/>Optic Atrophy--pathology<br/>Osteochondrodysplasias--diagnostic imaging<br/>Pedigree<br/>Phosphorylation<br/>Protein Transport--genetics<br/>Radiography<br/>Receptor Protein-Tyrosine Kinases--genetics<br/>Receptors, Mitogen--genetics<br/>Sequence Analysis, DNA<br/>Sequence Deletion--genetics<br/>Siblings