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[Analysis of a family with 11β-hydroxylase deficiency due to a mutation in the CYP11B1 gene].

Zhonghua yi xue za zhi - 11 Jun 2024

Yu Y Y, Tao Y K, Hou J Z, Zhou G X, Du J J, Zhang D

Abstract excerpt

This study reports a family of patients with 11β-hydroxylase deficiency (11β-OHD) caused by a novel mutation in the CYP11B1 gene, and analyzes its clinical and genetic characteristics. The clinical data of a patient with intractable hypertension at Air Force Medical Center on May 16, 2014 were retrospectively analyzed. The patient was clinically diagnosed with congenital adrenal cortical hyperplasia. The clinical...

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Identifiers

PMID: 38858218
DOI: 10.3760/cma.j.cn112137-20240204-00271

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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