Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance

Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous overgrowth disease. BWS is caused by (epi)genetic defects at the 11p15 chromosomal region, which harbors two clusters of imprinted genes, IGF2/H19 and CDKN1C/KCNQ1OT1, regulated by differential methylation of imprinting...

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Detalles Bibliográficos
Autores principales: Fontana, Laura, Tabano, Silvia, Maitz, Silvia, Colapietro, Patrizia, Garzia, Emanuele, Gerli, Alberto Giovanni, Sirchia, Silvia Maria, Miozzo, Monica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8036922/
https://www.ncbi.nlm.nih.gov/pubmed/33810554
http://dx.doi.org/10.3390/ijms22073445

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8036922/
https://www.ncbi.nlm.nih.gov/pubmed/33810554
http://dx.doi.org/10.3390/ijms22073445

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