Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
MAST1基因突变导致巨胼胝体综合征伴小脑发育不全和皮质畸形
期刊:Neuron
影响因子:14.7
doi:10.1016/j.neuron.2018.10.044
Ratna Tripathy ,Ines Leca ,Tessa van Dijk ,Janneke Weiss ,Bregje W van Bon ,Maria Christina Sergaki ,Thomas Gstrein ,Martin Breuss ,Guoling Tian ,Nadia Bahi-Buisson ,Alexander R Paciorkowski ,Alistair T Pagnamenta ,Andrea Wenninger-Weinzierl ,Maria Fernanda Martinez-Reza ,Lukas Landler ,Stefano Lise ,Jenny C Taylor ,Gaetano Terrone ,Giuseppina Vitiello ,Ennio Del Giudice ,Nicola Brunetti-Pierri ,Alessandra D'Amico ,Alexandre Reymond ,Norine Voisin ,Jonathan A Bernstein ,Ellyn Farrelly ,Usha Kini ,Thomas A Leonard ,Stéphanie Valence ,Lydie Burglen ,Linlea Armstrong ,Susan M Hiatt ,Gregory M Cooper ,Kimberly A Aldinger ,William B Dobyns ,Ghayda Mirzaa ,Tyler Mark Pierson ,Frank Baas ,Jamel Chelly ,Nicholas J Cowan ,David Anthony Keays