1. Aldosterone defects in infants and young children with hyperkalemia: A single center retrospective study
   Xu Liu et al, 2023, Frontiers in Pediatrics CrossRef
2. Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay
   Niu Li et al, 2017, Medicine CrossRef
3. Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency
   Niu Li et al, 2017, International Journal of Molecular Sciences CrossRef
4. Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review
   Hui Miao et al, 2019, Steroids CrossRef
5. Aldosterone signaling defect in young infants: single-center report and review
   Melati Wijaya et al, 2021, BMC Endocrine Disorders CrossRef
6. Steroid 11β-hydroxylase deficiency and related disorders
   Perrin C. White, 2023, Genetic Steroid Disorders CrossRef
7. Adverse effects of an aldosterone synthase (CYP11B2) inhibitor, fadrozole (FAD286), on inflamed rat colon
   Hanna Launonen et al, 2023, Basic & Clinical Pharmacology & Toxicology CrossRef
8. Aldosterone synthase deficiency associated with a CYP11B2 variant of uncertain significance: Case report and literature review
   Bayan AlNassir et al, 2024, Journal of Clinical and Translational Endocrinology: Case Reports CrossRef
9. De NovoMutation ofKAT6BGene Causing Atypical Say–Barber–Biesecker–Young–Simpson Syndrome or Genitopatellar Syndrome
   Guoqiang Li et al, 2017, Fetal and Pediatric Pathology CrossRef