Pinson, Lucile <br/><br/>
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jan 2014 
 - 177-81 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.36166  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Aneuploidy<br/>Child, Preschool<br/>Chromosome Disorders--diagnosis<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Facies<br/>Female<br/>Humans<br/>Microtubule-Associated Proteins--genetics<br/>Mosaicism<br/>Mutation<br/>Nuclear Proteins--genetics<br/>Pedigree<br/>Phenotype