CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

doi:10.1002/ajmg.a.33453

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

American journal of medical genetics. Part A - 1 Jun 2010

Romanelli Valeria, Belinchón Alberta, Benito-Sanz Sara, Martínez-Glez Victor, Gracia-Bouthelier Ricardo, Heath Karen E, Campos-Barros Angel, García-Miñaur Sixto, Fernandez Luís, Meneses Heloisa, López-Siguero Juan Pedro, Guillén-Navarro Encarna, Gómez-Puertas Paulino, Wesselink Jan-Jaap, Mercado Graciela, Esteban-Marfil Victoria, Palomo Rebeca, Mena Rocío, Sánchez Aurora, Del Campo Miguel, Lapunzina Pablo

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macroglossia, macrosomia, and abdominal wall defects. It is a multigenic disorder caused in most patients by alterations in growth regulatory genes. A small number of individuals with BWS (5-10%) have mutations in CDKN1C, a cyclin-dependent kinase inhibitor of G1 cyclin complexes that functions as a negative regulator of cellular growth...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Beckwith-Wiedemann Syndrome

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Child

Share to Child, Preschool

Share to Cyclin-Dependent Kinase Inhibitor p57

Share to Genotype

Share to Infant

Share to Polymorphism, Genetic

Share to Protein Conformation

Source

Open in PubMed

Identifiers

PMID: 20503313
DOI: 10.1002/ajmg.a.33453

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.PMID 20503313Read ↗

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.Semantic proximity Read ↗

A novel maternally inherited CDKN1C variant in a familial beckwith-wiedemann syndrome case: expanding the genotype-phenotype spectrum.Semantic proximity Read ↗

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.Semantic proximity Read ↗

Beckwith-Wiedemann syndrome: multiple molecular mechanisms.Semantic proximity Read ↗

p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Expanded phenotype and cancer risk in patients with Beckwith-Wiedemann spectrum caused by CDKN1C variants.Semantic proximity Read ↗

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene.Semantic proximity Read ↗

New p57 KIP2 mutations in Beckwith-Wiedemann syndromeSemantic proximity Read ↗

Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phaseSemantic proximity Read ↗

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic VariantsSemantic proximity Read ↗

Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors.Semantic proximity Read ↗

Beckwith-Wiedemann Syndrome in Newborn of Mother with HELLP Syndrome/Preeclampsia: An Analysis of Literature and Case Report with Fetal Growth Restriction and Absence of CDKN1C Typical Pathogenic Genetic Variation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.