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Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation

Kabuki syndrome (KS) is a rare genetic disorder caused primarily by mutations in the histone modifier genes KMT2D and KDM6A. The genes have broad temporal and spatial expression in many organs, resulting in complex phenotypes observed in KS patients. Hypotonia is one of the clinical presentations as...

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Detalles Bibliográficos
Autores principales: Wright, Alec, Hall, Arielle, Daly, Tara, Fontelonga, Tatiana, Potter, Sarah, Schafer, Caitlin, Lindsley, Andrew, Hung, Christina, Bodamer, Olaf, Gussoni, Emanuela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8500524/
https://www.ncbi.nlm.nih.gov/pubmed/34613626
http://dx.doi.org/10.1096/fj.202100823R