Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome

Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the NSD1 (nuclear receptor binding SET domain containing protein 1) gene. No clinical diagnostic consensus criteria are published yet, and molecular analysis reduces the clinical diagnostic uncertainty. We screened 1530 unrela...

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Detalles Bibliográficos
Autores principales: Testa, Barbara, Conteduca, Giuseppina, Grasso, Marina, Cecconi, Massimiliano, Lantieri, Francesca, Baldo, Chiara, Arado, Alessia, Andraghetti, Laura, Malacarne, Michela, Milani, Donatella, Coviello, Domenico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956575/
https://www.ncbi.nlm.nih.gov/pubmed/36833222
http://dx.doi.org/10.3390/genes14020295

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