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Updated: Jun 25, 2025

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
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在雷特综合征患者的骨科条件和功能能力和MECP2变异亚型的相互作用

María Galán-Olleros1, Elena González-Alguacil2, Víctor Soto-Insuga2

  • 1Neuro-Orthopaedic Unit, Orthopaedic Surgery and Traumatology Department, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. mgalanolleros@gmail.com.

Journal of autism and developmental disorders
|May 25, 2024
PubMed
概括

脚变形最常见的是雷特综合征 (RTT),影响功能. 脊椎和膝盖问题也会影响运动技能,与MECP2突变类型有联系. 管理是工作的关键.

关键词:
在MECP2突变中.功能性评估是一种功能性评估.整形外科 整形外科 整形外科雷特综合征是什么意思 雷特综合征是什么意思脊椎形症是什么? 脊椎形症是什么?

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