病例报告:牙增生症和脊椎病作为EMC10相关神经发育障碍的额外特征

Gaëlle Forest-St-Onge1, Jean-François Soucy1, Marie-Ange Delrue1

  • 1Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.

Clinical genetics
|March 28, 2025
PubMed
概括

这项研究确定了EMC10中的一种新的致病突变,扩大了EMC10相关神经发育障碍的已知症状. 它强调了重新分析外体数据以准确诊断的价值.

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