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
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
Expanding the known phenotype of Mullegama-Klein-Martinez syndrome in male patients.
Freyberger F et al.
Human Genome Variation, 2021
Nonsense variants of STAG2 result in distinct congenital anomalies.
Aoi H et al.
Human Genome Variation, 2020
Cohesin complex-associated holoprosencephaly.
Kruszka P et al.
Brain : a Journal of Neurology, 2019
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