Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains

BACKGROUND: Whereas duplications in 11p15.5 covering both imprinting centers (ICs) and their subordinated genes account for up to 1% of Beckwith–Wiedemann and Silver–Russell syndrome patients (BWS, SRS), the deletions in 11p15.5 reported so far only affect one of the ICs. In these cases, not only th...

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Detalles Bibliográficos
Autores principales: Eggermann, Thomas, Begemann, Matthias, Pfeiffer, Lutz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7863277/
https://www.ncbi.nlm.nih.gov/pubmed/33541417
http://dx.doi.org/10.1186/s13148-021-01020-w

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