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William Grey, Louise Izatt, Wafa Sahraoui, Yiu-Ming Ng, Caroline Ogilvie, Anthony Hulse, Eric Tse, Roman Holic and Veronica Yu Deficiency of the Cyclin-Dependent Kinase Inhibitor, CDKN1B, Results in Overgrowth and Neurodevelopmental Delay Human Mutation 34

Article first published online: 12 APR 2013 | DOI: 10.1002/humu.22314

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Recessive threshold model of CDKN1B in neurodevelopment. Model depicting the proband case with maternally deleted CDKN1B and a de novo variant c.-73G>A on the paternal allele. This leads to an overall decrease in CDKN1B protein level, impacting on neurodevelopment.

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