Background Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …

IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal
hypoplasia congenita and genital anomalies) is an undergrowth developmental disorder …

Genomic imprinting is an epigenetically regulated mechanism leading to parental-origin
allele-specific expression. Beckwith–Wiedemann syndrome (BWS) is an imprinting disease …

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 …

Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia,
abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular …

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by prenatal
and/or postnatal overgrowth, organomegaly, abdominal wall defects and tumor …

Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder
characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised …

Mutations in the imprinted CDKN1C gene are associated with the childhood developmental
disorder Beckwith-Wiedemann syndrome (BWS). Multiple mouse models with deficiency of …

Beckwith-Wiedemann syndrome (BWS) is an imprinting-related human disease that is
characterized by macrosomia, macroglossia, abdominal wall defects, and variable minor …

Cyclin-dependent kinase (CDK)-inhibitor 1C (CDKN1C) negatively regulates cellular
proliferation and it has been shown that loss-of-function mutations in the imprinted CDKN1C …