Niceta, M <br/><br/>
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.  [electronic resource] 

 -  Clinical genetics  03 2018 
 - 632-639 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.13128  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Alleles<br/>Child<br/>Child, Preschool<br/>Cytoplasmic Dyneins--genetics<br/>Ellis-Van Creveld Syndrome--diagnosis<br/>Female<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Genetic Testing<br/>Humans<br/>Male<br/>Mutation<br/>Odds Ratio<br/>Pedigree<br/>Phenotype<br/>Radiography<br/>Exome Sequencing<br/>Young Adult