de Kock, Leanne <br/><br/>
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.  [electronic resource] 

 -  Journal of medical genetics  Jan 2016 
 - 43-52 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2015-103428  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>Computational Biology--methods<br/>DEAD-box RNA Helicases--genetics<br/>DNA Mutational Analysis<br/>Female<br/>Genetic Association Studies<br/>High-Throughput Nucleotide Sequencing--methods<br/>Humans<br/>Loss of Heterozygosity<br/>Male<br/>Mosaicism<br/>Mutation<br/>Neoplasms, Multiple Primary--diagnosis<br/>Phenotype<br/>Ribonuclease III--genetics<br/>Sensitivity and Specificity<br/>Syndrome