-
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
Jerber, Julie; Zaki, Maha S.; Al-Aama, Jumana Y.; Rosti, Rasim Ozgur; Ben-Omran, Tawfeg; Dikoglu, Esra; Gleeson, Joseph G. (CELL PRESS, 2016)Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia. COB occurs in a wide range of genetic ...
