Author

Chunfang Liang

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Review Open access Jul 2026

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling.

A novel exon 2 NR3C1 frameshift variant is described that co-segregates with a characteristic GRS hormonal profile and is supported by clinical, genetic, and structural evidence.

Sufang Yun, Zhifeng Zhu, Fengyee Zhou et al. · American Journal of Medical... · 0 citations