Dentici, Maria L <br/><br/>
Expanding the clinical spectrum associated with PACS2 mutations.  [electronic resource] 

 -  Clinical genetics  04 2019 
 - 525-531 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.13516  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Amino Acid Sequence<br/>Amino Acid Substitution<br/>Brain--abnormalities<br/>Child<br/>Facies<br/>Genetic Association Studies--methods<br/>Genetic Loci<br/>Genetic Predisposition to Disease<br/>Humans<br/>Magnetic Resonance Imaging<br/>Male<br/>Mutation<br/>Phenotype<br/>Vesicular Transport Proteins--genetics<br/>Exome Sequencing