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Article

Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.

Clinical epigenetics - 19 Oct 2020

Binder Gerhard, Ziegler Julian, Schweizer Roland, Habhab Wisam, Haack Tobias B, Heinrich Tilman, Eggermann Thomas

Abstract excerpt

BACKGROUND: Pathogenic CDKN1C gain-of-function variants on the maternal allele were initially reported as a cause of IMAGe syndrome characterized by intrauterine growth retardation, metaphyseal dysplasia, primary adrenal insufficiency and genital anomalies. Recently, a maternally inherited CDKN1C missense mutation (p.Arg279Leu) was identified in several members of a single family clinically diagnosed with...

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Source

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Identifiers

PMID: 33076988
DOI: 10.1186/s13148-020-00945-y
PMCID: PMC7574352

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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