Reijnders, Margot R F <br/><br/>
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.  [electronic resource] 

 -  Journal of medical genetics  02 2018 
 - 104-113 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2017-104946  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>DNA-Binding Proteins--chemistry<br/>Drosophila Proteins--chemistry<br/>Eye Abnormalities--genetics<br/>Face--abnormalities<br/>Female<br/>Genetic Association Studies<br/>Humans<br/>Infant, Newborn<br/>Intellectual Disability--genetics<br/>Muscle Hypotonia--etiology<br/>Mutation<br/>Pregnancy<br/>Structural Homology, Protein<br/>Syndrome<br/>Transcription Factors--chemistry