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 truncating mutations in Lysine(K) acetyltransferase 6A (KAT6A). ARTHS is clinically heterogeneous and characterized by several common features including intellectual disability, developmental and speech delay,...

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Detalles Bibliográficos
Autores principales: Singh, Meghna, Spendlove, Sarah, Wei, Angela, Bondhus, Leroy, Nava, Aileen, 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: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418288/
https://www.ncbi.nlm.nih.gov/pubmed/37577627
http://dx.doi.org/10.1101/2023.08.03.550595

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