Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants

CCCTC-Binding Factor (CTCF) is a protein-coding gene involved in transcriptional regulation, insulator activity, and regulation of chromatin structure, and is closely associated with intellectual developmental disorders. In this study, we report two unrelated Chinese patients with intellectual disab...

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Detalles Bibliográficos
Autores principales: Tan, Bo, Liu, Sihan, Feng, Xiaoshu, Pan, Xin, Qian, Guanhua, Liu, Li, Zhang, Xu, Yao, Hong, Dong, Xiaojing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469948/
https://www.ncbi.nlm.nih.gov/pubmed/37664546
http://dx.doi.org/10.3389/fped.2023.1195862

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469948/
https://www.ncbi.nlm.nih.gov/pubmed/37664546
http://dx.doi.org/10.3389/fped.2023.1195862

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