Persistent Notochord in a Fetus with COL2A1 Mutation

• Príomhchruthaitheoirí: Elisabeth Codsi (Údar), Brian C. Brost (Údar), Arij Faksh (Údar), Amber K. Volk (Údar), Kristi S. Borowski (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: Hindawi Limited, 2015-01-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

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...