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Article

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.

Clinical epigenetics - 1 Jan 2016

Boonen Susanne Eriksen, Freschi Andrea, Christensen Rikke, Valente Federica Maria, Lildballe Dorte Launholt, Perone Lucia, Palumbo Orazio, Carella Massimo, Uldbjerg Niels, Sparago Angela, Riccio Andrea, Cerrato Flavia

Abstract excerpt

BACKGROUND: The overgrowth-associated Beckwith-Wiedemann syndrome (BWS) and the undergrowth-associated Silver-Russell syndrome (SRS) are characterized by heterogeneous molecular defects affecting a large imprinted gene cluster at chromosome 11p15.5-p15.4. While maternal and paternal duplications of the entire cluster consistently result in SRS and BWS, respectively, the phenotypes associated with smaller...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27313795
DOI: 10.1186/s13148-016-0236-z
PMCID: PMC4910218

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