Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes at chromosome 11p15. The molecular confirmation of this syndrome is possible in approximately 85% of the cases, whereas in the remaining 15% of the cases, the underlying defect remains unclear. The goal of our rese...

Descripción completa

Detalles Bibliográficos
Autores principales: Krzyzewska, I. M., Alders, M., Maas, S. M., Bliek, J., Venema, A., Henneman, P., Rezwan, F. I., Lip, K. v. d., Mul, A. N., Mackay, D. J. G., Mannens, M. M. A. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429826/
https://www.ncbi.nlm.nih.gov/pubmed/30898153
http://dx.doi.org/10.1186/s13148-019-0649-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429826/
https://www.ncbi.nlm.nih.gov/pubmed/30898153
http://dx.doi.org/10.1186/s13148-019-0649-6

Ejemplares similares