KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster

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Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder caused by heterozygous, de novo mutations in Lysine(K) acetyltransferase 6A (KAT6A). ARTHS is clinically heterogeneous and characterized by several common features, including intellectual disability, developmental and speech delay, and hypoto...

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Detalles Bibliográficos
Autores principales: Singh, Meghna, Spendlove, Sarah J., Wei, Angela, Bondhus, Leroy M., Nava, Aileen A., de L. Vitorino, Francisca N., Amano, Seth, Lee, Jacob, Echeverria, Gesenia, Gomez, Dianne, Garcia, Benjamin A., Arboleda, Valerie A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10676314/
https://www.ncbi.nlm.nih.gov/pubmed/37861717
http://dx.doi.org/10.1007/s00439-023-02608-3

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