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
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Hardcastle A et al.
American Journal of Medical Genetics. Part A, 2022
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
Select a paper to view details