Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants

Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with a specific genome-wide DNA methylation (DNAm) pattern. Sotos syndrome is characterized by phenotypic overlap with other overgrowth syndromes, and a definite diagnosis might not be easily reached due t...

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Detalles Bibliográficos
Autores principales: Ferilli, Marco, Ciolfi, Andrea, Pedace, Lucia, Niceta, Marcello, Radio, Francesca Clementina, Pizzi, Simone, Miele, Evelina, Cappelletti, Camilla, Mancini, Cecilia, Galluccio, Tiziana, Andreani, Marco, Iascone, Maria, Chiriatti, Luigi, Novelli, Antonio, Micalizzi, Alessia, Matraxia, Marta, Menale, Lucia, Faletra, Flavio, Prontera, Paolo, Pilotta, Alba, Bedeschi, Maria Francesca, Capolino, Rossella, Baban, Anwar, Seri, Marco, Mammì, Corrado, Zampino, Giuseppe, Digilio, Maria Cristina, Dallapiccola, Bruno, Priolo, Manuela, Tartaglia, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690023/
https://www.ncbi.nlm.nih.gov/pubmed/36421837
http://dx.doi.org/10.3390/genes13112163

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