Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

De novo loss-of-function (LoF) variants in the KMT2A gene are associated with Wiedemann−Steiner Syndrome (WSS). Recently, de novo KMT2A variants have been identified in sequencing studies of cohorts of individuals with neurodevelopmental disorders (NDDs). However, most of these studies lack the deta...

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Detalles Bibliográficos
Autores principales: Chan, Ada J. S., Cytrynbaum, Cheryl, Hoang, Ny, Ambrozewicz, Patricia M., Weksberg, Rosanna, Drmic, Irene, Ritzema, Anne, Schachar, Russell, Walker, Susan, Uddin, Mohammed, Zarrei, Mehdi, Yuen, Ryan K. C., Scherer, Stephen W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486600/
https://www.ncbi.nlm.nih.gov/pubmed/31044088
http://dx.doi.org/10.1038/s41525-019-0083-x

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