First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review-Reference-Cited by-同舟云学术

First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review

Published:2024-07-04 Issue: Volume: Page:1-23
ISSN:1385-4046
Container-title:The Clinical Neuropsychologist
language:en
Short-container-title:The Clinical Neuropsychologist

Author:

Apicella Massimo¹²,Battisti Andrea¹³,Pisaneschi Elisa⁴,Menghini Deny¹^ORCID,Digilio Maria Cristina⁵,Vicari Stefano¹⁶

Affiliation:

1. Child & Adolescent Neuropsychiatry Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

2. Department of Neuroscience, Catholic University of the Sacred Heart, Rome, Italy

3. Department of Human Science, LUMSA University, Rome, Italy

4. Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy

5. Genetics and Rare Diseases Research Unit, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy

6. Department of Life Science and Public Health, Catholic University of the Sacred Heart, Rome, Italy

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13854046.2024.2372879

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5. BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes