Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic regulation, especially during embryonic development. Somatic variants in DNMT...

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Publicat a:Eur J Hum Genet
Autors principals: Tenorio, Jair, Alarcón, Pablo, Arias, Pedro, Dapía, Irene, García-Miñaur, Sixto, Palomares Bralo, María, Campistol, Jaume, Climent, Salvador, Valenzuela, Irene, Ramos, Sergio, Monseny, Antonio Martínez, Grondona, Fermina López, Botet, Javier, Serrano, Mercedes, Solís, Mario, Santos-Simarro, Fernando, Álvarez, Sara, Teixidó-Tura, Gisela, Fernández Jaén, Alberto, Gordo, Gema, Bardón Rivera, María Belén, Nevado, Julián, Hernández, Alicia, Cigudosa, Juan C., Ruiz-Pérez, Víctor L., Tizzano, Eduardo F., Lapunzina, Pablo
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7080728/
https://ncbi.nlm.nih.gov/pubmed/31685998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0485-3
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