Pretegiani, Elena <br/><br/>
Nicolaides-Baraitser syndrome: defining a phenotype.  [electronic resource] 

 -  Journal of neurology  Aug 2016 
 - 1659-60 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter 
<br/><br/><label>ISSN: </label>1432-1459 
<br/><br/><label>Standard No.: </label>10.1007/s00415-016-8194-0  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Facies<br/>Female<br/>Foot Deformities, Congenital--complications<br/>Humans<br/>Hyperinsulinism--etiology<br/>Hypotrichosis--complications<br/>Intellectual Disability--complications<br/>KRIT1 Protein<br/>Microtubule-Associated Proteins--genetics<br/>Mutation--genetics<br/>Phenotype<br/>Proto-Oncogene Proteins--genetics<br/>Transcription Factors--genetics