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Identification of two novel variants of the BCL11B gene in two Chinese pedigrees associated with neurodevelopmental disorders

OBJECTIVE: According to a recent report, the mutation of transcription factor gene BCL11B is associated with the development of neurodevelopmental disorders and immune deficiency. By analyzing both clinical features and genetic variations, this study aims to reveal the genetic etiology of four patie...

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Detalles Bibliográficos
Autores principales: Che, Fengyu, Tie, Xiaoling, Lei, Hong, Zhang, Xi, Duan, Mingyue, Zhang, Liyu, Yang, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513357/
https://www.ncbi.nlm.nih.gov/pubmed/36176959
http://dx.doi.org/10.3389/fnmol.2022.927357