Barat-Houari, Mouna <br/><br/>
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.  [electronic resource] 

 -  European journal of human genetics : EJHG  07 2016 
 - 992-1000 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.2015.250  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution<br/>Arthritis--genetics<br/>Collagen Diseases--genetics<br/>Collagen Type II--chemistry<br/>Connective Tissue Diseases--genetics<br/>Female<br/>Hearing Loss, Sensorineural--genetics<br/>Humans<br/>Male<br/>Osteochondrodysplasias--genetics<br/>Pedigree<br/>Phenotype<br/>Protein Domains<br/>Retinal Detachment--genetics