Associated Papers
[Analysis of a family with 11β-hydroxylase deficiency due to a mutation in the CYP11B1 gene].
Yu YY et al.
Zhonghua Yi Xue Za Zhi, 2024
Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.
Tang S et al.
Endocrine, 2024
Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia.
Zhang R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
[Clinical, genetic, and pathological analysis in 165 children with disorders of sex development].
Cao YY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.
Sun B et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
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