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
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
Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.
Aoi H et al.
Journal of Human Genetics, 2019
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.
Mullegama SV et al.
Molecular Genetics & Genomic Medicine, 2019
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
Mullegama SV et al.
American Journal of Medical Genetics. Part A, 2017
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