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Updated: Jun 8, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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在CCN2中双变体是自体递归基因组发育不良症的基础

Swati Singh1, Sumita Danda2, Neetu Sharma3

  • 1Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

European journal of human genetics : EJHG
|November 6, 2024
PubMed
概括

基福梅尔性形症被确定为由CCN2.2中双性功能丧失变体引起的自体逆行性疾病. 这项研究详细介绍了新的遗传发现,并证实了CCN2的存在.

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