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Article

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

American journal of medical genetics. Part A - 1 Oct 2024

George Andrew M, Viswanathan Aravind, Best Lyle G, Monahan Caitlin, Limmina Maria, Ganguly Arupa, Kalish Jennifer M

Abstract excerpt

Beckwith-Wiedemann spectrum (BWSp) is caused by genetic and epigenetic alterations on chromosome 11 that regulate cell growth and division. Considering the diverse phenotypic landscape in BWSp, the characterization of the CDKN1C molecular subtype remains relatively limited. Here, we investigate the role of CDKN1C in the broader BWSp phenotype. Notably, patients with CDKN1C variants appear to exhibit a different...

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Identifiers

PMID: 38822599
DOI: 10.1002/ajmg.a.63777

Genes

CDKN1C

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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.

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