Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of <i>CDKN1C</i>

Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of <i>CDKN1C</i>

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by prenatal and/or postnatal overgrowth, organomegaly, abdominal wall defects and tumor predisposition. <i>CDKN1C</i> is a maternally expressed gene of the 11p15.5 chromosomal region and is regulated by the imprint...

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Bibliographic Details
Main Authors: Angela Sparago, Flavia Cerrato, Laura Pignata, Francisco Cammarata-Scalisi, Livia Garavelli, Carmelo Piscopo, Alessandra Vancini, Andrea Riccio
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
CDKN1C
Beckwith-Wiedemann syndrome
genomic imprinting
loss-of-function mutations
exomphalos
Online Access:https://www.mdpi.com/2073-4425/12/5/706

Internet

https://www.mdpi.com/2073-4425/12/5/706

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