Isik, Esra <br/><br/>
Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping.  [electronic resource] 

 -  European journal of medical genetics  Sep 2019 
 - 103544 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2018.09.011  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Arthrogryposis--genetics<br/>Codon, Nonsense<br/>Genetic Testing--methods<br/>Humans<br/>Infant<br/>Male<br/>Molecular Chaperones--genetics<br/>Penetrance<br/>Exome Sequencing