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CTCF variant begets to short stature by down-regulation of IGF1

Pathogenic variants in the transcription factor CCCTC-binding factor (CTCF) are associated with mental retardation, autosomal dominant 21 (MRD21, MIM#615502). Current studies supported the strong relationship between CTCF variants and growth, yet the mechanism of CTCF mutation leading to short statu...

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Detalles Bibliográficos
Autores principales: Chen, Hong, Li, Weiyu, Zhang, Suping, Sun, Yunteng, Shen, Yiping, Chen, Ruimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160550/
https://www.ncbi.nlm.nih.gov/pubmed/36847142
http://dx.doi.org/10.1530/JME-22-0193