Sequencing of coding regions of genes associated with known clinical conditions. For the purpose of the analysis, only genes related to the clinical indication ADAR, CA2 COL4A1,CTC1, ERCC6, ERCC8, GAL
A 16-year-old girl present recurrent pulmonary infection, lymphocytic interstitial lung disease, hepatosplenomegaly, failure to thrive. We conducted the WES to confirm the cause.
Sequencing of coding regions of genes associated with known clinical conditions. For the purpose of the analysis, only genes related to the clinical indication ADAR, CA2 COL4A1,CTC1, ERCC6, ERCC8, GAL