TY - JOUR AU - Shimojima, Keiko AU - Narita, Aya AU - Maegaki, Yoshihiro AU - Saito, Akira AU - Furukawa, Toru AU - Yamamoto, Toshiyuki PY - 2014 DA - 2014/07/22 TI - Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report JO - BMC Research Notes SP - 465 VL - 7 IS - 1 AB - Owing to the number of genetic mutations that contribute to malformations of cortical development, identification of causative mutations in candidate genes is challenging. To overcome these challenges, we performed whole-exome sequencing in this study. SN - 1756-0500 UR - https://doi.org/10.1186/1756-0500-7-465 DO - 10.1186/1756-0500-7-465 ID - Shimojima2014 ER -