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Article

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

Human mutation - 1 Feb 2012

Robinson Alexis, Escuin Sarah, Doudney Kit, Vekemans Michel, Stevenson Roger E, Greene Nicholas D E, Copp Andrew J, Stanier Philip

Abstract excerpt

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 polarity (PCP) signaling pathway. Previous studies of humans with CRN failed to identify mutations in the core PCP...

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Source

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Identifiers

PMID: 22095531
DOI: 10.1002/humu.21662
PMCID: PMC4772123

Genes

CELSR1
SCRIB
PRICKLE1
PTK7
VANGL1
VANGL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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