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
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12040594
Abstract: Type 2 congenital microcephaly (MCPH2) is a brain development disorder characterized by primary microcephaly with or without brain malformations. MCPH2 is caused by mutations in the WDR62 gene. We present three new patients with MCPH2… read more here.
Keywords: wdr62 gene; primary microcephaly; phenotype genotype; mutations wdr62 ... See more keywords