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

Crossref DOI link: https://doi.org/10.1186/s13148-020-00925-2

Published Online: 2020-09-14

Published Print: 2020-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

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 http://orcid.org/0000-0003-3794-3021
Riccio, Andrea
Funding

Funding for this research was provided by:

H2020-MSCA-COFUND (665403)

Associazione Italiana per la Ricerca sul Cancro (18671)

Progetti per la ricerca oncologica della Regione Campania (I-Cure)

Progetti competitivi intraAteneo” Programma V:ALERE (VAnviteLli pEr la RicErca) 2019 (MIRIAM)

Fondazione Telethon (GGP15131)
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Article History

Received: 23 June 2020

Accepted: 25 August 2020

First Online: 14 September 2020

Ethics approval and consent to participate

: Approval to conduct this study was obtained from the Ethical Committee of the University of Campania “Luigi Vanvitelli” together with the signed informed consent from parents of the individuals involved in this study.

: Consent for publication of clinical and molecular data was obtained from parents of the individuals involved in this study.

: The authors declare that they have no potential competing interests to disclose. The authors declare that they have no financial relationships relevant to this article to disclose.

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