Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy

BACKGROUND: Lysine acetyltransferase 6B (KAT6B) encodes a highly conserved histone acetyltransferase that regulates the expression of multiple genes and is essential for human growth and development. METHODS: We identified a novel frameshift variant c.3185del (p.leu1062Argfs*52) in a 5‐year‐old Chin...

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Detalles Bibliográficos
Autores principales: Sun, Xiaoang, Luo, Xiaona, Lin, Longlong, Wang, Simei, Wang, Chunmei, Yuan, Fang, Lan, Xiaoping, Yan, Jingbin, Chen, Yucai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496035/
https://www.ncbi.nlm.nih.gov/pubmed/37288707
http://dx.doi.org/10.1002/mgg3.2202

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496035/
https://www.ncbi.nlm.nih.gov/pubmed/37288707
http://dx.doi.org/10.1002/mgg3.2202

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