Campos-Xavier, Belinda <br/><br/>
Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.  [electronic resource] 

 -  American journal of medical genetics. Part A  12 2018 
 - 2934-2935 p.  digital 
<br/><br/> Publication Type: Letter 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.40631  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Comparative Genomic Hybridization<br/>Female<br/>GTP-Binding Proteins--genetics<br/>Genetic Testing<br/>Genetic Variation<br/>Humans<br/>Joint Instability--diagnosis<br/>Male<br/>Mutation<br/>Osteochondrodysplasias--diagnosis<br/>Phenotype<br/>Radiography