Associated Papers
Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian family.
Shirodkar AN et al.
Clinical Dysmorphology, 2025
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
A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family.
Parveen A et al.
Human Genome Variation, 2023
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