Li, Niu <br/><br/>
Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review.  [electronic resource] 

 -  Medicine  May 2017 
 - e6914 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review 
<br/><br/><label>ISSN: </label>1536-5964 
<br/><br/><label>Standard No.: </label>10.1097/MD.0000000000006914  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Codon, Nonsense<br/>Developmental Disabilities--complications<br/>Eye Abnormalities--complications<br/>Humans<br/>Infant<br/>Male<br/>Microcephaly--complications<br/>Phenotype<br/>beta Catenin--genetics