Loss-of-function mutations in the gene encoding the cyclin-dependent kinase inhibitor CDKN1C cause Beckwith-Wiedemann syndrome and cancer. A new study now identifies potentially gain-of-function missense mutations in CDKN1C that cause the undergrowth-associated IMAGe syndrome.
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Riccio, A., Cubellis, M. Gain of function in CDKN1C. Nat Genet 44, 737–738 (2012). https://doi.org/10.1038/ng.2336
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DOI: https://doi.org/10.1038/ng.2336
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