Nishimura, Gen <br/><br/>
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jun 2010 
 - 1443-9 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.33414  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Child<br/>Female<br/>Genetic Variation<br/>Humans<br/>Male<br/>Mucopolysaccharidosis II--diagnostic imaging<br/>Mutation<br/>Osteochondrodysplasias--diagnostic imaging<br/>Pedigree<br/>Radiography<br/>TRPV Cation Channels--genetics