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Article

A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report.

BMC endocrine disorders - 27 Apr 2018

Duan Lian, Shen Rufei, Song Lingyu, Liao Yong, Zheng Hongting

Abstract excerpt

BACKGROUND: 11β-Hydroxylase deficiency (11OHD) is a common form of congenital adrenal hyperplasia that has been shown to result from inactivating CYP11B1 mutations, and pathogenic CYP11B2/CYP11B1 chimeras contribute to a minority of cases. Heterozygote cases (chimeras combined with missense mutation) are very rare, and genetic analysis of these cases is difficult. CASE PRESENTATION: We describe an 11OHD patient...

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Identifiers

PMID: 29703198
DOI: 10.1186/s12902-018-0249-z
PMCID: PMC5921981

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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