Clinical manifestations and genetic analysis of a newborn with Arboleda−Tham syndrome

Arboleda−Tham syndrome (ARTHS) is a rare disorder first characterized in 2015 and is caused by mutations in lysine (K) acetyltransferase 6A (KAT6A, a.k.a. MOZ, MYST3). Its clinical symptoms have rarely been reported in newborns from birth up to the first few months after birth. In this study, a newb...

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Detalles Bibliográficos
Autores principales: Zeng, Feng, Yang, Yue, Xu, Zhaohui, Wang, Ziwen, Ke, Huan, Zhang, Jianhong, Dong, Tongtong, Yang, Wenming, Wang, Jiuxiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9641261/
https://www.ncbi.nlm.nih.gov/pubmed/36386811
http://dx.doi.org/10.3389/fgene.2022.990098

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9641261/
https://www.ncbi.nlm.nih.gov/pubmed/36386811
http://dx.doi.org/10.3389/fgene.2022.990098

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