Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

Craniorachischisis (CRN) is a severe neural tube defect (NTD) resulting from failure to initiate closure, leaving the hindbrain and spinal neural tube entirely open. Clues to the genetic basis of this condition come from several mouse models, which harbor mutations in core members of the planar cell...

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Veröffentlicht in:Human mutation 2012-02, Vol.33 (2), p.440-447
Hauptverfasser: Robinson, Alexis, Escuin, Sarah, Doudney, Kit, Vekemans, Michel, Stevenson, Roger E., Greene, Nicholas D.E., Copp, Andrew J., Stanier, Philip
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Sprache:eng
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