Menzies, Lara <br/><br/>
A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.  [electronic resource] 

 -  Clinical dysmorphology  Oct 2019 
 - 219-223 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1473-5717 
<br/><br/><label>Standard No.: </label>10.1097/MCD.0000000000000291  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Craniofacial Abnormalities--diagnosis<br/>Dwarfism--diagnosis<br/>Facies<br/>Genetic Testing<br/>Homozygote<br/>Humans<br/>Joint Instability--diagnosis<br/>Mutation<br/>Nucleotidases--genetics<br/>Ossification, Heterotopic--diagnosis<br/>Phenotype<br/>Polydactyly--diagnosis<br/>Radiography