Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
Charlotte Herbst,
Viktoria Bothe,
Meret Wegler
et al.
Abstract:Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation or formation of neurites are associated with various psychiatric and neurodevelopmental disorders. Dynamic changes in the cytoskeleton are essential for this process, which is, inter alia, controlled by the dedicator of cytokinesis 4 (DOCK4) through the activation of RAC1. Here, we clinically describe 7 individuals (6 males and one female) with variants in DOCK4 and overlapping phenotype of… Show more
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