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Article

Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Nov 1992

Helmberg A, Ausserer B, Kofler R

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of corticosteroid biosynthesis primarily caused by a deficiency in either of two heme-containing cytochrome P450-enzymes: steroid 21- or 11 beta-hydroxylase (causing approximately 90% and 5-8% of classical CAH cases, respectively). Depending on the patient's gender, the affected enzyme, and the extent of enzymatic dysfunction, symptoms...

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Identifiers

PMID: 1430088
DOI: 10.1210/jcem.75.5.1430088

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

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Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.PMID 1430088Read ↗

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Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients.Semantic proximity Read ↗

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CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.Semantic proximity Read ↗

Diagnosis, treatment and genetic analysis of 11β -hydroxylase deficiency caused by CYP11B gene mutation.Semantic proximity Read ↗

Mutations in CYP11B1 gene: phenotype-genotype correlations.Semantic proximity Read ↗

Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients.Semantic proximity Read ↗

Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia.Semantic proximity Read ↗

Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in theCYP11B1GeneSemantic proximity Read ↗

Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiency.Semantic proximity Read ↗

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