Associated Papers
Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex.
Jelin AC et al.
Frontiers in Genetics, 2024
Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining.
Totoń-Żurańska J et al.
International Journal of Molecular Sciences, 2019
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 580.240
Identification of novel CELSR1 mutations in spina bifida.
Lei Y et al.
Plos One, 2014
A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects.
Juriloff DM et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
Robinson A et al.
Human Mutation, 2012
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