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Journal ArticleOPEN ACCESS

Persistent Notochord in a Fetus with COL2A1 Mutation

  • Codsi E
  • Brost B
  • Faksh A
  • et al.
Case Reports in Obstetrics and Gynecology (2015) 2015 1-3
DOI: 10.1155/2015/935204
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Abstract

Multiple anomalies including micromelia, poor mineralization of the vertebrae, and a persistent notochord were identified on second trimester ultrasound in a fetus with a COL2A1 mutation. To our knowledge, this represents the first case of a persistent notochord associated with a COL2A1 mutation in humans. In this case report, we describe ultrasound and postmortem findings and review the pathogenesis associated with a persistent notochord.

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APA

Codsi, E., Brost, B. C., Faksh, A., Volk, A. K., & Borowski, K. S. (2015). Persistent Notochord in a Fetus with COL2A1 Mutation. Case Reports in Obstetrics and Gynecology, 2015, 1–3. https://doi.org/10.1155/2015/935204

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