Associated Papers
Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature.
Liaqat K et al.
Genetic Testing and Molecular Biomarkers, 2025
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Schnur RE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Deciphering the mutational signature of congenital limb malformations.
Sun L et al.
Molecular Therapy. Nucleic Acids, 2021
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).
Yamoto K et al.
European Journal of Human Genetics : Ejhg, 2019
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