Discordant phenotype caused by CASK mutation in siblings with NF1
Sign Up to like & getrecommendations! Published in 2019 at "Human Genome Variation"
DOI: 10.1038/s41439-019-0051-0
Abstract: 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… read more here.
Keywords: phenotype caused; nf1 discordant; discordant phenotype; caused cask ... See more keywords