Associated Papers
A Novel Variant of STAG1 Gene and Literature Review.
Xie M et al.
Annals of Human Genetics, 2025
A novel frameshift STAG1 variant exhibiting haploinsufficiency due to the nonsense-mediated mRNA decay: a case report and literature review.
Jiang C et al.
Frontiers in Pediatrics, 2025
Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant.
Funato M et al.
Congenital Anomalies, 2022
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