Associated Papers
Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study.
Lee Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
CDKN1C gene mutation causing familial Silver-Russell syndrome: A case report and review of literature.
Li J et al.
World Journal of Clinical Cases, 2023
Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.
Binder G et al.
Clinical Epigenetics, 2020
Analysis of CDKN1C in fetal growth restriction and pregnancy loss.
Suntharalingham JP et al.
F1000research, 2019
Familial Russell-Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case.
Sabir AH et al.
Case Reports in Genetics, 2019
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.
Tümer Z et al.
Human Mutation, 2018
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
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.
Brioude F et al.
Journal of Medical Genetics, 2013
Select a paper to view details