Eric Vilain and colleagues identify missense mutations in the imprinted gene CDKN1C, encoding the p57KIP2 cyclin dependent kinase inhibitor, in individuals with IMAGe syndrome. IMAGe syndrome is a developmental disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies.
- Valerie A Arboleda
- Hane Lee
- Eric Vilain
