%0 Journal Article
%T Discordant phenotype caused by CASK mutation in siblings with NF1
%J -
%D 2019
%R https://doi.org/10.1038/s41439-019-0051-0
%X With the advent of next-generation sequencing (NGS), a blended phenotype has been shown to be caused by multilocus molecular diagnosis. Here, we present siblings of neurofibromatosis type 1 (NF1) with discordant phenotypes. Further genetic investigation revealed that the younger sister had trisomy 8 mosaicism with a low ratio and a known pathogenic mutation in the CASK gene. This is the first report of a blended phenotype caused by NF1, CASK disorder, and trisomy 8 mosaicism
%U https://www.nature.com/articles/s41439-019-0051-0