A5020028224- Genomics and Rare Diseases
- Safety and Risk Management
- Genetics and Neurodevelopmental Disorders
- Optical Imaging and Spectroscopy Techniques
- Educational Reforms and Innovations
- Cardiomyopathy and Myosin Studies
- Advanced Fluorescence Microscopy Techniques
- Muscle Physiology and Disorders
- Optical Coherence Tomography Applications
- Epilepsy research and treatment
- Folate and B Vitamins Research
- Metabolism and Genetic Disorders
- Amino Acid Enzymes and Metabolism
- Medical Research and Treatments
- Neurogenetic and Muscular Disorders Research
National University of Defense Technology
2024
Shandong University
2024
Shandong Center for Disease Control and Prevention
2024
Heidelberg University
2007
BackgroundDual occurrence of distinct genetic diseases is exceptionally rare, complicating both diagnosis and management when the conditions share overlapping symptoms.Case presentationWe describe a preschooler girl diagnosed with Down syndrome at 27 months who developed unexplained motor regression age. Extensive investigations were carried out to elucidate etiology, encompassing comprehensive neuromuscular skeletal assessments, radiographic evaluations joints, electrophysiological studies,...