Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny

Beckwith–Wiedemann syndrome (BWS, OMIM # 130650) is an imprinting disorder, associated with overgrowth and increased risk of embryonal tumors. Patients carrying hypomethylation in the KCNQ1OT1:TSS DMR (11p15.5) show MLID (Multilocus Imprinting Disturbance) upon epimutations at other imprinted region...

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Detalles Bibliográficos
Autores principales: Tannorella, Pierpaola, Calzari, Luciano, Daolio, Cecilia, Mainini, Ester, Vimercati, Alessandro, Gentilini, Davide, Soli, Fiorenza, Pedrolli, Annalisa, Bonati, Maria Teresa, Larizza, Lidia, Russo, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8941822/
https://www.ncbi.nlm.nih.gov/pubmed/35317853
http://dx.doi.org/10.1186/s13148-022-01262-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8941822/
https://www.ncbi.nlm.nih.gov/pubmed/35317853
http://dx.doi.org/10.1186/s13148-022-01262-2

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