Associated Papers
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.
Algahtani H et al.
Seizure, 2019
Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.
De Marco P et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 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
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.
Bosoi CM et al.
Human Mutation, 2011
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