Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
ZEB1基因功能缺失变异会导致胼胝体显性异常,但认知预后良好。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2023-109293
Heide, Solveig; Argilli, Emanuela; Valence, Stéphanie; Boutaud, Lucile; Roux, Nathalie; Mignot, Cyril; Nava, Caroline; Keren, Boris; Giraudat, Kim; Faudet, Anne; Gerasimenko, Anna; Garel, Catherine; Blondiaux, Eleonore; Rastetter, Agnès; Grevent, David; Le, Carolyn; Mackenzie, Lisa; Richards, Linda; Attié-Bitach, Tania; Depienne, Christel; Sherr, Elliott; Héron, Delphine