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Article

Analysis of CDKN1C in Beckwith Wiedemann syndrome.

Human mutation - 1 Jan 2000

Algar E, Brickell S, Deeble G, Amor D, Smith P

Abstract excerpt

In this study we have examined 32 patients with Beckwith Wiedemann Syndrome (BWS) for mutations affecting the CDKN1C gene, including seven cases of familial BWS. Mutations were not detected in the coding region of the CDKN1C gene in any individual with BWS. However in two patients, two G/A base substitutions at adjacent positions in the 5'UTR were detected. These substitutions were also found in normal controls....

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Source

Identifiers

PMID: 10862080
DOI: 10.1002/1098-1004(200006)15:6<497::AID-HUMU2>3.0.CO;2-F

Genes

IGF2

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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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