Redwood, A <br/><br/>
Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.  [electronic resource] 

 -  European journal of medical genetics  Feb 2020 
 - 103658 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2019.04.015  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Cataract--congenital<br/>Cohort Studies<br/>Databases, Genetic<br/>Female<br/>Genes, X-Linked<br/>Heart Septal Defects--diagnosis<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Microphthalmos--diagnosis<br/>Mosaicism<br/>Oligonucleotide Array Sequence Analysis<br/>Pedigree<br/>Phenotype<br/>Point Mutation<br/>Proto-Oncogene Proteins--genetics<br/>Rare Diseases--genetics<br/>Repressor Proteins--genetics<br/>Sequence Analysis, DNA<br/>Sequence Deletion