Associated Papers
NUAK2 Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature.
Mastromoro G et al.
Diagnostics (basel, Switzerland), 2025
Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.
Biterge Sut B
Birth Defects Research, 2025
Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.
Szoszkiewicz A et al.
Orphanet Journal of Rare Diseases, 2024
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.
Barrell WB et al.
European Journal of Human Genetics : Ejhg, 2022
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
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