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Article

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.

The Journal of clinical endocrinology and metabolism - 1 Oct 2014

Kerns Sarah L, Guevara-Aguirre Jaime, Andrew Shayne, Geng Juan, Guevara Carolina, Guevara-Aguirre Marco, Guo Michael, Oddoux Carole, Shen Yiping, Zurita Andres, Rosenfeld Ron G, Ostrer Harry, Hwa Vivian, Dauber Andrew

Abstract excerpt

CONTEXT: CDKN1C, a cyclin-dependent kinase inhibitor and negative regulator of cellular proliferation, is paternally imprinted and has been shown to regulate β-cell proliferation. CDKN1C mutations are associated with growth disorders, including Beckwith-Wiedemann syndrome and IMAGe syndrome. OBJECTIVE: To investigate the genetic basis for a familial disorder characterized by intrauterine growth restriction, short...

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Identifiers

PMID: 25057881
DOI: 10.1210/jc.2014-1949
PMCID: PMC4184067

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.PMID 25057881Read ↗

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Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.Semantic proximity Read ↗

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

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