Associated Papers
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 2021
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Brioude F et al.
Human Mutation, 2015
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
Arboleda VA et al.
Nature Genetics, 2012
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
Romanelli V et al.
American Journal of Medical Genetics. Part A, 2010
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