Novel compound heterozygous mutation in STAMBP causes a neurodevelopmental disorder by disrupting cortical proliferation.
Hu M, Li H, Huang Z, Li D, Xu Y, Xu Q, Chen B, Wang Y, Deng J, Zhu M, Feng W, Xu X
Front Neurosci. 2022 Aug 10;16:963813. doi: 10.3389/fnins.2022.963813. eCollection 2022.
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