De Rosa, M Laura Garcia <br/><br/>
Homozygous N540K hypochondroplasia--first report: radiological and clinical features.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jul 2014 
 - 1784-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.36504  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Bone and Bones--abnormalities<br/>Brain--pathology<br/>Dwarfism--diagnosis<br/>Facies<br/>Genetic Association Studies<br/>Heterozygote<br/>Homozygote<br/>Humans<br/>Infant<br/>Limb Deformities, Congenital--diagnosis<br/>Lordosis--diagnosis<br/>Magnetic Resonance Imaging<br/>Male<br/>Mutation<br/>Phenotype<br/>Radiography<br/>Receptor, Fibroblast Growth Factor, Type 3--genetics