Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. Nizon M, Cogne B, Vallat J-M, Joubert M, Liet J-M, Simon L, Vincent M, Küry S, Boisseau P, Schmitt S, et al. Eur J Hum Genet. 2016 Oct 26. PMID: 27782105. Abstract CommentRecommendBookmarkWatch