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
Aplasia cutis congenita associated with a heterozygous loss-of-function UBA2 variant.
Wang Y et al.
The British Journal of Dermatology, 2020
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020
32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ051
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
Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway.
Marble M et al.
American Journal of Medical Genetics. Part A, 2017
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