Cargando…
Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice
SIMPLE SUMMARY: Beckwith–Wiedemann syndrome (BWS, OMIM 130650) is an inborn overgrowth disorder caused by molecular alterations in chromosome 11p15.5. These molecular changes affect so-called imprinted genes, i.e., genes which underlie a complex regulation which is linked to the parental origin of t...
Autores principales: | Eggermann, Thomas, Maher, Eamonn R., Kratz, Christian P., Prawitt, Dirk |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9265096/ https://www.ncbi.nlm.nih.gov/pubmed/35804856 http://dx.doi.org/10.3390/cancers14133083 |
Ejemplares similares
-
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes
por: Mackay, Deborah J.G., et al.
Publicado: (2019) -
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study
por: Cöktü, Sümeyye, et al.
Publicado: (2020) -
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
por: Eggermann, Thomas, et al.
Publicado: (2020) -
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
por: Eggermann, Katja, et al.
Publicado: (2016) -
Beckwith-Wiedemann syndrome
por: Mishra, Deeksha, et al.
Publicado: (2023)