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Genetic analysis of a family with Ellis-van Creveld syndrome caused by compound heterozygous mutations in the EVC gene: A case report and literature review
Medical Journal of Chinese People′s Liberation Army   Vol. 50, Issue 2, Pages: 168-175(2025)
Clinical Research | 更新时间：2025-03-10
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    • Genetic analysis of a family with Ellis-van Creveld syndrome caused by compound heterozygous mutations in the EVC gene: A case report and literature review

    • “The Prenatal Diagnosis Center of Shijiazhuang Obstetrics and Gynecology Hospital reported a suspected case of Ellis van Creveld syndrome in a fetus. Through whole exome sequencing technology, a compound heterozygous mutation in the EVC gene was discovered, providing new evidence for the genetic variation spectrum of this syndrome.”

    • DOI：10.11855/j.issn.0577-7402.0966.2024.1017    

      CLC： R715.5

    • Received：24 August 2023，

      Accepted：2023-12-28，

      Published Online：17 October 2024，

      Published：28 February 2025

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  • Sun Dong-Lan,Chen Wen-Qi,Zhang Jing,et al.Genetic analysis of a family with Ellis-van Creveld syndrome caused by compound heterozygous mutations in the EVC gene: A case report and literature review[J].Medical Journal of Chinese People′s Liberation Army,2025,50(02):168-175. DOI： 10.11855/j.issn.0577-7402.0966.2024.1017.

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