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De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

The histone H3 variant H3.3, encoded by two genes H3-3A and H3-3B, can replace canonical isoforms H3.1 and H3.2. H3.3 is important in chromatin compaction, early embryonic development, and lineage commitment. The role of H3.3 in somatic cancers has been studied extensively, but its association with...

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Detalles Bibliográficos
Autores principales: Okur, Volkan, Chen, Zefu, Vossaert, Liesbeth, Peacock, Sandra, Rosenfeld, Jill, Zhao, Lina, Du, Haowei, Calamaro, Emily, Gerard, Amanda, Zhao, Sen, Kelsay, Jill, Lahr, Ashley, Mighton, Chloe, Porter, Hillary M., Siemon, Amy, Silver, Josh, Svihovec, Shayna, Fong, Chin-To, Grant, Christina L., Lerner-Ellis, Jordan, Manickam, Kandamurugu, Madan-Khetarpal, Suneeta, McCandless, Shawn E., Morel, Chantal F., Schaefer, G. Bradley, Berry-Kravis, Elizabeth M., Gates, Ryan, Gomez-Ospina, Natalia, Qiu, Guixing, Zhang, Terry Jianguo, Wu, Zhihong, Meng, Linyan, Liu, Pengfei, Scott, Daryl A., Lupski, James R., Eng, Christine M., Wu, Nan, Yuan, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8651650/
https://www.ncbi.nlm.nih.gov/pubmed/34876591
http://dx.doi.org/10.1038/s41525-021-00268-8