Open access
Jan 2026
Two Cases of ASXL3‐Related Bainbridge–Ropers Syndrome: Clinical and Genetic Evaluation
This case report emphasizes the phenotypic spectrum of this disorder and describes a variant that has not been previously reported in the literature, which is associated with heterozygous truncating pathogenic variants in the ASXL3 gene.
Şirin Sedef Baş, Burcu Yeter, N. Elçioğlu
· Case Reports in Genetics · 0 citations