NEK1 and skeletal dysplasia: For example, NEK1 mutations have been found in human patients with autosomal recessive Majewski type short-rib polydactyly syndrome, which is associated with polycystic kidneys (Thiel et al, 2011; Chen et al, 2012), lethal skeletal dysplasia, polydactyly, facial dysmorphism, drastic growth defects in utero, and microcephaly (Chen et al, 2012).