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

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

Descripción completa

Detalles Bibliográficos
Autores principales: Sparago, Angela, Cerrato, Flavia, Pignata, Laura, Cammarata-Scalisi, Francisco, Garavelli, Livia, Piscopo, Carmelo, Vancini, Alessandra, Riccio, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151838/
https://www.ncbi.nlm.nih.gov/pubmed/34065128
http://dx.doi.org/10.3390/genes12050706

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151838/
https://www.ncbi.nlm.nih.gov/pubmed/34065128
http://dx.doi.org/10.3390/genes12050706

Ejemplares similares