Mutations in PLK4 , encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

ndrew Jackson, Peter Nürnberg and colleagues identify mutations in PLK4 and TUBGCP6 in individuals with microcephaly, primordial dwarfism, retinopathy and other congenital anomalies. These findings extend the spectrum of human phenotypes associated with centriole dysfunction.