Associated Papers
Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.
Yang Q et al.
Experimental and Therapeutic Medicine, 2026
A novel NMD-escaping STAG2 variant associated with syndromic neurodevelopmental delay, growth failure, and distinctive dysmorphism: expanding the phenotype in male patients and literature review.
Ahmad F et al.
Gene, 2026
Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation.
Kong MD et al.
Journal of Clinical Medicine, 2025
STAG2: Computational Analysis of Missense Variants Involved in Disease.
Ros-Pardo D et al.
International Journal of Molecular Sciences, 2024
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Schmidt J et al.
Frontiers in Cell and Developmental Biology, 2022
Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients.
Freyberger F et al.
Human Genome Variation, 2021
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