CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis
CNTNAP1基因突变会导致中枢神经系统髓鞘形成不足和神经病变,伴或不伴关节挛缩。
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000144
Hengel, Holger; Magee, Alex; Mahanjah, Muhammad; Vallat, Jean-Michel; Ouvrier, Robert; Abu-Rashid, Mohammad; Mahamid, Jamal; Schüle, Rebecca; Schulze, Martin; Krägeloh-Mann, Ingeborg; Bauer, Peter; Züchner, Stephan; Sharkia, Rajech; Schöls, Ludger