Title: A homozygous loss-of-function <i>CAMK2A</i> mutation causes growth delay, frequent seizures and severe intellectual disability.
Authors: Chia PH, Zhong FL, Niwa S, Bonnard C, Utami KH, Zeng R, Lee H, Eskin A, Nelson SF, Xie WH, Al-Tawalbeh S, El-Khateeb M, Shboul M, Pouladi MA, Al-Raqad M, Reversade B
Journal: Elife
Published: 2018-05-22
Volume: 7