Zheng, Wen-Bin <br/><br/>
Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.  [electronic resource] 

 -  Molecular genetics & genomic medicine  03 2020 
 - e1139 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2324-9269 
<br/><br/><label>Standard No.: </label>10.1002/mgg3.1139  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Child, Preschool<br/>Collagen Type II--chemistry<br/>Female<br/>Humans<br/>Male<br/>Mutation<br/>Osteochondrodysplasias--genetics<br/>Pedigree<br/>Phenotype<br/>Protein Domains