Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Lysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as “writer” of the epigenetic machinery. Mutations in KMT2A were first reported in Wiedemann–Steiner syndrome (WDSTS). More recently, KMT2A variants have...

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Detalles Bibliográficos
Autores principales: Di Fede, Elisabetta, Massa, Valentina, Augello, Bartolomeo, Squeo, Gabriella, Scarano, Emanuela, Perri, Anna Maria, Fischetto, Rita, Causio, Francesco Andrea, Zampino, Giuseppe, Piccione, Maria, Curridori, Elena, Mazza, Tommaso, Castellana, Stefano, Larizza, Lidia, Ghelma, Filippo, Colombo, Elisa Adele, Gandini, Maria Chiara, Castori, Marco, Merla, Giuseppe, Milani, Donatella, Gervasini, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7852672/
https://www.ncbi.nlm.nih.gov/pubmed/32641752
http://dx.doi.org/10.1038/s41431-020-0679-8

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