Novel De Novo <scp><i>RALA</i></scp> Missense Variants Expand the Genotype Spectrum of Hiatt‐Neu‐Cooper Neurodevelopmental Syndrome
Our findings expand the genotype and phenotype spectrum of Hiatt-Neu-Cooper neurodevelopmental syndrome. Our observations also support the important role of variants affecting the GTP/GDP-binding site of the RALA protein in the pathogenesis of Hiatt-Neu-Cooper neurodevelopmental syndrome.
Authors
- Maria Margherita Mancardi (ORCID: https://orcid.org/0000-0001-5122-4029)
- Marcello Scala (ORCID: https://orcid.org/0000-0003-2194-7239)
- Valeria Capra (ORCID: https://orcid.org/0000-0002-3097-0388)
- Mohammad Sadegh Shams Nosrati (ORCID: https://orcid.org/0000-0002-5762-0601)
- Ferruccio Romano (ORCID: https://orcid.org/0009-0005-3933-0597)
- Federico Zara (ORCID: https://orcid.org/0000-0001-9744-5222)
- Fabiana Vercellino (ORCID: https://orcid.org/0000-0001-6980-3248)
- Alice Dainelli (ORCID: https://orcid.org/0000-0002-5876-3508)
- Vincenzo Nigro
- Annalaura Torella
Institutions
- University of Campania "Luigi Vanvitelli" (IT)
- Istituto Giannina Gaslini (IT)
- Telethon Institute Of Genetics And Medicine (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Azienda Ospedaliera Nazionale SS. Antonio e Biagio e Cesare Arrigo (IT)
- University of Genoa (IT)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1002/mgg3.70072
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00