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Updated: Mar 10, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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具有COMP基因变异的PSACH/EDM1患者的基因型-表型相关性:对830例病例的综合审查

Xiaolin Ni1, Liya Wei1, Weibo Xia2

  • 1Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Frontiers in endocrinology
|March 9, 2026
PubMed
概括

伪冠状动态生长症 (PSACH) 和多发性长性失育症-1 (EDM1) 是由COMP基因变异引起的骨疾病. PSACH表现出比EDM1更严重的表型,鉴定出明显的遗传变异关联.

关键词:
这就是 COMP 基因.基因型-表型相关性相关性多发性形发育不良-1-1伪性亚冠多质细胞增生症变种 变种 变种 变种 变种

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