Duplication at 19q13.32q13.33 Segregating with Neuropsychiat…
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- DOI 10.3390/genes14122157
- PMID https://pubmed.ncbi.nlm.nih.gov/38136979
- OpenAlex ID W4389144417
- Type Article
- Language EN
- Published 29 Nov 2023
- Volume 14 (12)
- Pages 2157
- Source Genes
- Publisher Multidisciplinary Digital Publishin…
- Countries 1
- Institutions 4
- Added 10 Oct 2025
- Updated 26 Sep 2026
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Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region
Article 2023 EN Gold
Chromosomal submicroscopic imbalances represent well-known causes of neurodevelopmental disorders. In some cases, these can cause specific autosomal dominant syndromes, with high-to-complete penetrance and de novo occurrence of the variant. In other cases, they result in non-syndromic neurodevelopmental disorders, often acting as moderate-penetrance risk factors, possibly inherited from unaffected…
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UN Sustainable Development Goals
1 SDGsAuthors & Affiliations
10 authors| # | Author | Institutions | ORCID |
|---|---|---|---|
| 1 | Daniele Guadagnolo Corresponding | Sapienza University of Rome (IT) | |
| 2 | Gioia Mastromoro | Sapienza University of Rome (IT) | |
| 3 | Bárbara Torres | Casa Sollievo della Sofferenza (IT) | |
| 4 | Enrica Marchionni | Sapienza University of Rome (IT) | |
| 5 | Francesca Di Palma | Sapienza University of Rome (IT) | |
| 6 | Marina Goldoni | Casa Sollievo della Sofferenza (IT) | |
| 7 | Dario Cocciadiferro | Bambino Gesù Children's Hospit… (IT) Istituti di Ricovero e Cura a … (IT) | |
| 8 | Antonio Novelli | Bambino Gesù Children's Hospit… (IT) Istituti di Ricovero e Cura a … (IT) | |
| 9 | Laura Bernardini | Casa Sollievo della Sofferenza (IT) | |
| 10 | Antonio Pizzuti | Casa Sollievo della Sofferenza (IT) Sapienza University of Rome (IT) |
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