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Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
- Arboleda, Valerie A;
- Lee, Hane;
- Parnaik, Rahul;
- Fleming, Alice;
- Banerjee, Abhik;
- Ferraz-de-Souza, Bruno;
- Délot, Emmanuèle C;
- Rodriguez-Fernandez, Imilce A;
- Braslavsky, Debora;
- Bergadá, Ignacio;
- Dell'Angelica, Esteban C;
- Nelson, Stanley F;
- Martinez-Agosto, Julian A;
- Achermann, John C;
- Vilain, Eric
Published Web Location
https://doi.org/10.1038/ng.2275Abstract
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.
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