Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome

Author:

Accogli Andrea12ORCID,Scala Marcello12ORCID,Calcagno Annalisa3,Castello Raffaele4,Torella Annalaura45,Musacchia Francesco4,Allegri Anna M. E.3,Mancardi Maria M.6,Maghnie Mohamad3,Severino Mariasavina7,Nigro Vincenzo45,Capra Valeria1,

Affiliation:

1. UOC Neurochirurgia; Istituto Giannina Gaslini; Genoa Italy

2. Università degli studi di Genova; Italy

3. UOC Clinica Pediatrica; Istituto Giannina Gaslini, Università di Genova; Genoa Italy

4. Telethon Institute of Genetics and Medicine; Pozzuoli Italy

5. Department of Precision Medicine; University of Campania “Luigi Vanvitelli”; Naples Italy

6. UOC Neuropsichiatria Infantile-Centro Epilessia; Istituto Giannina Gaslini; Genoa Italy

7. UOC Neuroradiologia; Istituto Giannina Gaslini; Genoa Italy

Funder

Telethon Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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