Kharbanda, Mira <br/><br/>
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.  [electronic resource] 

 -  European journal of medical genetics  Feb 2017 
 - 130-135 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2016.11.008  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>Developmental Disabilities--genetics<br/>Exome--genetics<br/>Female<br/>Haploinsufficiency--genetics<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Microcephaly--genetics<br/>Mutation<br/>Phenotype<br/>Sequence Analysis, DNA<br/>beta Catenin--genetics