https://www.selleckchem.com/pr....oducts/JNJ-26481585.
BACKGROUND The development of Whole-Exome sequencing (WES) and Whole-Genome sequencing (WGS) for clinical purpose allows now to identify multiple pathogenic variants in a patient with a rare disease. Even when a single causative gene was initially suspected. We present here the case of an 8-year-old patient, with global developmental delay and dysmorphic features, with possibly pathogenic variant in 3 distinct genes. METHODS Trio based exome sequencing was performed thanks to IntegraGen SA (Evry, France), on Illumina HiSeq4000 (Ill
Like
Comment
Share
