1. Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency
   Niu Li et al, 2017, IJMS CrossRef
2. Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review
   Hui Miao et al, 2019, Steroids CrossRef
3. De NovoMutation ofKAT6BGene Causing Atypical Say–Barber–Biesecker–Young–Simpson Syndrome or Genitopatellar Syndrome
   Guoqiang Li et al, 2017, Fetal and Pediatric Pathology CrossRef
4. 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
5. Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature
   Hadley Stevens Smith et al, 2019, Genet Med CrossRef
6. Aldosterone defects in infants and young children with hyperkalemia: A single center retrospective study
   Xu Liu et al, 2023, Front. Pediatr. CrossRef
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   Perrin C. White, 2023 CrossRef
8. Adverse effects of an aldosterone synthase (CYP11B2) inhibitor, fadrozole (FAD286), on inflamed rat colon
   Hanna Launonen et al, 2023, Basic Clin Pharma Tox CrossRef
9. Aldosterone synthase deficiency associated with a CYP11B2 variant of uncertain significance: Case report and literature review
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