Discordant phenotype caused by CASK mutation in siblings with NF1.
Murakami H, Kimura Y, Enomoto Y, Tsurusaki Y, Akahira-Azuma M, Kuroda Y, Tsuji M, Goto T, Kurosawa K.
Murakami H, et al. Among authors: akahira azuma m.
Hum Genome Var. 2019 Apr 26;6:20. doi: 10.1038/s41439-019-0051-0. eCollection 2019.
Hum Genome Var. 2019.
PMID: 31044082
Free PMC article.