Further delineation of the phenotype caused by loss of function mutations in PRMT7.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.07.007
Abstract: PRMT7 encodes for an arginine methyltransferase that methylates arginine residues on various protein substrates and has been shown to play a role in various developmental processes. Mutations in PRMT7 have been recently shown to be… read more here.
Keywords: mutations prmt7; phenotype; phenotype caused; delineation phenotype ... See more keywords
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