Craniorachischisis

Disease ID:261
Name:Craniorachischisis
Associated with:1 target

Targets

CELSR1
References:  1-2
Mutations:  CELSR1 is associated with 5 mutation. Click here for details

Ligands

No ligand related data available for Craniorachischisis

References

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1. Curtin JA, Quint E, Tsipouri V, Arkell RM, Cattanach B, Copp AJ, Henderson DJ, Spurr N, Stanier P, Fisher EM, Nolan PM, Steel KP, Brown SD, Gray IC, Murdoch JN. (2003) Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Curr Biol, 13: 1129-1133. [PMID:12842012]

2. Robinson A, Escuin S, Doudney K, Vekemans M, Stevenson RE, Greene ND, Copp AJ, Stanier P. (2012) Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum. Mutat., 33 (2): 440-7. [PMID:22095531]