Kavli Affiliate: Jin Kang | Authors: McSweeney, Rafael Gabriel, Kang Jin, Zhiping P. Pang, Bruce Aronow and ChangHui Pak | Summary: Loss-of-function (LOF) mutations in CASK cause severe developmental phenotypes, including microcephaly with pontine and cerebellar hypoplasia, X-linked intellectual disability, and autism. Unraveling the pathogenesis of CASK-related disorders has been challenging due to limited human […]
Continue.. Loss of Neurodevelopmental Gene CASK Disrupts Neural Connectivity in Human Cortical Excitatory Neurons