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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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Pubblicato in:Clin Epigenetics
Autori principali: Eggermann, Thomas, Begemann, Matthias, Pfeiffer, Lutz
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2021
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7863277/
https://ncbi.nlm.nih.gov/pubmed/33541417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-021-01020-w
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