Persistent Notochord in a Fetus with COL2A1 Mutation. | LitMetric

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Persistent Notochord in a Fetus with COL2A1 Mutation. | LitMetric

Persistent Notochord in a Fetus with COL2A1 Mutation.

Elisabeth Codsi Brian C Brost Arij Faksh Amber K Volk Kristi S Borowski

Case Rep Obstet Gynecol

Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

Published: October 2015

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.

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578830	PMC
http://dx.doi.org/10.1155/2015/935204	DOI Listing

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