A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report

TBL1XR1, also known as IRA1 or TBLR1, encodes a protein that is localized in the nucleus and is expressed in most tissues. TBL1XR1 binds to histones H(2)B and H(4) in vitro and functions in nuclear receptor-mediated transcription. TBL1XR1 is also involved in the regulation of the Wnt–β-catenin signa...

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Detalles Bibliográficos
Autores principales: Wu, Xiao-Hui, Lin, Shuang-Zhu, Liu, Zhen-Xian, Qi, Yang-Fan, Wang, Wan-Qi, Li, Jia-Yi, Chen, Qian-Dui, Yang, Lu-Lu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174347/
https://www.ncbi.nlm.nih.gov/pubmed/37171308
http://dx.doi.org/10.1097/MD.0000000000033744

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174347/
https://www.ncbi.nlm.nih.gov/pubmed/37171308
http://dx.doi.org/10.1097/MD.0000000000033744

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