Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.
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| Title: | Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy. |
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| Authors: | L'Erario, Federica Francesca1 (AUTHOR), Gazzellone, Annalisa1,2 (AUTHOR), Contaldo, Ilaria2,3 (AUTHOR), Veredice, Chiara2,4 (AUTHOR), Carapelle, Marina1,5 (AUTHOR), Renzi, Anna Gloria1 (AUTHOR), Modafferi, Clarissa1 (AUTHOR), Palucci, Marta1 (AUTHOR), D'Ambrosio, Pino1 (AUTHOR), Sonnini, Elena1 (AUTHOR), Loberti, Lorenzo3 (AUTHOR), Panfili, Arianna4 (AUTHOR), Lucci Cordisco, Emanuela1 (AUTHOR), Chiurazzi, Pietro1 (AUTHOR), Trevisan, Valentina1,5 (AUTHOR), Leoni, Chiara5 (AUTHOR), Zampino, Giuseppe5 (AUTHOR), Pomponi, Maria Grazia1 (AUTHOR), Orteschi, Daniela1 (AUTHOR), Zollino, Marcella1 (AUTHOR) marcella.zollino@unicatt.it |
| Source: | Genes. Apr2025, Vol. 16 Issue 4, p469. 11p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 184751192 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=184751192 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/genes16040469 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 11 StartPage: 469 Titles: – TitleFull: Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: L'Erario, Federica Francesca – PersonEntity: Name: NameFull: Gazzellone, Annalisa – PersonEntity: Name: NameFull: Contaldo, Ilaria – PersonEntity: Name: NameFull: Veredice, Chiara – PersonEntity: Name: NameFull: Carapelle, Marina – PersonEntity: Name: NameFull: Renzi, Anna Gloria – PersonEntity: Name: NameFull: Modafferi, Clarissa – PersonEntity: Name: NameFull: Palucci, Marta – PersonEntity: Name: NameFull: D'Ambrosio, Pino – PersonEntity: Name: NameFull: Sonnini, Elena – PersonEntity: Name: NameFull: Loberti, Lorenzo – PersonEntity: Name: NameFull: Panfili, Arianna – PersonEntity: Name: NameFull: Lucci Cordisco, Emanuela – PersonEntity: Name: NameFull: Chiurazzi, Pietro – PersonEntity: Name: NameFull: Trevisan, Valentina – PersonEntity: Name: NameFull: Leoni, Chiara – PersonEntity: Name: NameFull: Zampino, Giuseppe – PersonEntity: Name: NameFull: Pomponi, Maria Grazia – PersonEntity: Name: NameFull: Orteschi, Daniela – PersonEntity: Name: NameFull: Zollino, Marcella IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: Apr2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 20734425 Numbering: – Type: volume Value: 16 – Type: issue Value: 4 Titles: – TitleFull: Genes Type: main |
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