Masingue, Marion <br/><br/>
A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect.  [electronic resource] 

 -  Neuromuscular disorders : NMD  01 2019 
 - 75-79 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1873-2364 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2018.10.005  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Arthrogryposis--genetics<br/>Codon, Nonsense<br/>Female<br/>Humans<br/>Ion Channels--genetics<br/>Pedigree<br/>Phenotype<br/>Scoliosis--genetics<br/>Siblings<br/>Somatosensory Disorders--genetics<br/>Young Adult