Associated Papers
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.
Berland S et al.
Journal of Medical Genetics, 2022
Analysis of CDKN1C in fetal growth restriction and pregnancy loss.
Suntharalingham JP et al.
F1000research, 2019
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.
Kerns SL et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.
Brioude F et al.
Journal of Medical Genetics, 2013
Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.
Hamajima N et al.
Plos One, 2013
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
Arboleda VA et al.
Nature Genetics, 2012
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