Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

BACKGROUND: PADI6 is a component of the subcortical maternal complex, a group of proteins that is abundantly expressed in the oocyte cytoplasm, but is required for the correct development of early embryo. Maternal-effect variants of the subcortical maternal complex proteins are associated with heter...

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Detalles Bibliográficos
Autores principales: Cubellis, Maria Vittoria, Pignata, Laura, Verma, Ankit, Sparago, Angela, Del Prete, Rosita, Monticelli, Maria, Calzari, Luciano, Antona, Vincenzo, Melis, Daniela, Tenconi, Romano, Russo, Silvia, Cerrato, Flavia, Riccio, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7489023/
https://www.ncbi.nlm.nih.gov/pubmed/32928291
http://dx.doi.org/10.1186/s13148-020-00925-2

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