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Updated: Jun 14, 2025

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与骨发育相关的CREBBP新型致病变体的功能分析

Qing Fang1, Yunlan Xu2, Jue Feng2

  • 1Pediatric Translational Medicine Institute, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, P. R. China.

Pediatric research
|August 31, 2024
PubMed
概括

一种新的CREBBP变体 (p.R1289W) 损害了小鼠的骨发育,导致身体长度减少和骨细胞功能改变. 这一发现突显了CREBBP在非综合征性骨发育不良症中的作用.

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