Neurologic, Neuropsychologic, and Neuroradiologic Features of <i>EBF3</i> -Related Syndrome-Reference-Cited by-同舟云学术

Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome

Published:2023-04 Issue:2 Volume:9 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Ciaccio Claudia¹^ORCID,Pantaleoni Chiara¹^ORCID,Moscatelli Marco¹^ORCID,Chiapparini Luisa¹^ORCID,Nigro Vincenzo¹^ORCID,Valente Enza Maria¹^ORCID,Sciacca Francesca¹^ORCID,Canafoglia Laura¹^ORCID,Bulgheroni Sara¹^ORCID,D'Arrigo Stefano¹^ORCID

Affiliation:

1. From the Department of Pediatric Neurosciences (C.C., C.P., S.B., S.D.A.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Neuroradiology Unit (M.M., Luisa Chiapparini), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano; Department of Biomedical Sciences for Health (M.M.), University of Milan; Neuroradiology Unit (Luisa Chiapparini), Fondazione IRCCS Policlinico San Matteo, Pavia; Telethon Institute of Genetics and Medicine (TIGEM) (V.N.), Pozzuoli; Department of Precision...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200049

Reference24 articles.

1. Emerging Roles of the EBF Family of Transcription Factors in Tumor Suppression

2. De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

3. Integrated genomic and epigenomic analyses pinpoint biallelic gene inactivation in tumors

4. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

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