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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

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