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在一群患有渐进性伪风湿性发育不良症的患者中进行临床和分子表征

Dina El Dessouki1, Khalda Amr2, Naglaa Kholoussi3

  • 1Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

American journal of medical genetics. Part A
|June 28, 2023
PubMed
概括

这项研究在埃及患者中发现了WISP3基因中的五种新型致病变体,这些患者患有渐进性伪风湿性发育不良 (PPRD). 这些发现扩大了这种罕见的骨发育不良的已知遗传原因.

关键词:
埃及患者的患者.在WISP3 (CCN6) 基因中,新型致病变体的新型致病变体渐进的伪风湿性发育不良症.

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