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A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.

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
Elife. 2018 May 22;7. pii: 32451. doi: 10.7554/eLife.32451. (Link opens in a new window) PubMed (Link opens in a new window) Article

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