Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance-Reference-Cited by-同舟云学术

Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance

Published:2021-11-15 Issue:1 Volume:43 Page:67-73
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Nuovo Sara¹^ORCID,Baglioni Valentina¹^ORCID,De Mori Roberta²^ORCID,Tardivo Silvia²^ORCID,Caputi Caterina¹^ORCID,Ginevrino Monia³⁴^ORCID,Micalizzi Alessia³^ORCID,Masuelli Laura⁵^ORCID,Federici Giulia⁶^ORCID,Casella Antonella⁷⁸^ORCID,Lorefice Elisa⁹^ORCID,Anello Danila¹⁰,Tolve Manuela⁵^ORCID,Farini Donatella¹¹¹²^ORCID,Bertini Enrico¹³^ORCID,Zanni Ginevra¹³^ORCID,Travaglini Lorena¹³^ORCID,Vasco Gessica¹⁴^ORCID,Sette Claudio¹²¹⁵^ORCID,Carducci Carla⁵^ORCID,Valente Enza M.⁷⁸^ORCID,Leuzzi Vincenzo¹^ORCID

Affiliation:

1. Department of Human Neuroscience Sapienza University of Rome Roma Italy

2. Neurogenetics Unit IRCCS Santa Lucia Foundation Roma Italy

3. Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital, IRCCS Roma Italy

4. Istituto di Medicina Genomica Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli" IRCCS Roma Italy

5. Department of Experimental Medicine Sapienza University of Rome Roma Italy

6. Unit of Cellular Networks and Molecular Therapeutic Targets IRCCS – Regina Elena National Cancer Institute Roma Italy

7. Department of Molecular Medicine University of Pavia Pavia Italy

8. Neurogenetics Research Centre, IRCCS Mondino Foundation Pavia Italy

9. Department of Molecular Medicine Sapienza University of Rome Roma Italy

10. Department of Medical and Surgery Sciences Catholic University of the Sacred Heart Roma Italy

11. Department of Biomedicine and Prevention University of Rome Tor Vergata Roma Italy

12. Laboratory of Neuroembryology, IRCCS Santa Lucia Foundation Roma Italy

13. Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation IRCCS Bambino Gesù Children's Hospital Roma Italy

14. Neuroscience and Neurorehabilitation Department MARlab, IRCCS Bambino Gesù Children's Hospital Roma Italy

15. Section of Human Anatomy, Department of Neuroscience Catholic University of the Sacred Heart Roma Italy

Funder

H2020 European Research Council

Fondazione Pierfranco e Luisa Mariani

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24293

Reference21 articles.