Persistent Notochord in a Fetus with COL2A1 Mutation

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...

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Detalles Bibliográficos
Autores principales: Codsi, Elisabeth, Brost, Brian C., Faksh, Arij, Volk, Amber K., Borowski, Kristi S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578830/
https://www.ncbi.nlm.nih.gov/pubmed/26435866
http://dx.doi.org/10.1155/2015/935204

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578830/
https://www.ncbi.nlm.nih.gov/pubmed/26435866
http://dx.doi.org/10.1155/2015/935204

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