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Authors
Aspromonte, Maria Cristina
Del Conte, Alessio
Polli, Roberta
Baldo, Demetrio
Benedicenti, Francesco
Bettella, Elisa
Bigoni, Stefania
Boni, Stefania
Ciaccio, Claudia
D’Arrigo, Stefano
Donati, Ilaria
Granocchio, Elisa
Mammi, Isabella
Milani, Donatella
Negrin, Susanna
Nosadini, Margherita
Soli, Fiorenza
Stanzial, Franco
Turolla, Licia
Piovesan, Damiano
Tosatto, Silvio C. E.
Murgia, Alessandra
Leonardi, Emanuela
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Funding
Funding for this research was provided by:
European Union—NextGenerationEU through ‘Italiadomani—PNRR’ project CN - G.T.RNA SP. 7 project - National Center for Gene Therapy and Drugs based on RNA Technology (MUR CN00000041, C.F. 92315700283, MUR CN00000041, C.F. 92315700283)
European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (3HP-HP-FPA ERN-01-2016/739516)
Università degli Studi di Padova
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Article History
Received: 16 December 2024
Accepted: 16 February 2025
First Online: 28 February 2025
Declarations
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: The authors declare no competing interests.
: This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of University Hospital of Padua, Italy. According to approved protocols of each referring clinical centre, written informed consent was obtained from the probands or their legal representatives for specimen collection and genetic analysis. All individuals recruited provided informed consent for their participation in the study and publication of relevant findings.
