Hammarsjö, Anna <br/><br/>
Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jan 2016 
 - 266-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.37387  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Arthroplasty, Replacement, Hip<br/>Arthroplasty, Replacement, Knee<br/>Collagen Type II--genetics<br/>Family<br/>Female<br/>Humans<br/>Joint Diseases--genetics<br/>Male<br/>Middle Aged<br/>Osteochondrodysplasias--congenital<br/>Young Adult