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

Craniorachischisis 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 harbour mutations in core members of the planar cell pola...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Robinson, Alexis, Escuin, Sarah, Doudney, Kit, Vekemans, Michel, Stevenson, Roger E, Greene, Nicholas DE, Copp, Andrew J, Stanier, Philip
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4772123/
https://ncbi.nlm.nih.gov/pubmed/22095531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21662
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