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.
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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Description
ISSN:20734425
DOI:10.3390/genes16040469