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Article

Absence of steroid biosynthetic defects in heterozygote individuals for classic 11 beta-hydroxylase deficiency due to a R448H mutation in the CYP11B1 gene.

The Journal of clinical endocrinology and metabolism - 1 Dec 1995

Rösler A, Cohen H

Abstract excerpt

Steroid 11 beta-hydroxylase deficiency (failure to convert 11-deoxy-cortisol to cortisol) is responsible for less than 5% of cases of classic congenital adrenal hyperplasia, but it is relatively frequent in Israel, among Jews of Moroccan origin. Affected individuals have a single base substitutio...

Topics

Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Adult
Female
Genes
Heterozygote
Humans
Infant
Israel
Jews
Male
Morocco
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Steroid 11-beta-Hydroxylase

Source

Identifiers

PMID: 8530633
DOI: 10.1210/jcem.80.12.8530633

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8530633-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Absence of steroid biosynthetic defects in heterozygote individuals for classic 11 beta-hydroxylase deficiency due to a R448H mutation in the CYP11B1 gene.PMID 8530633Read ↗

Evidence for endocrinological abnormalities in heterozygotes for adrenal 11 beta-hydroxylase deficiency of a family with the R448H mutation in the CYP11B1 gene.Semantic proximity Read ↗

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

Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.Semantic proximity Read ↗

Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population.Semantic proximity Read ↗

Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other.Semantic proximity Read ↗

Mutations in human 11 beta-hydroxylase genes: 11 beta-hydroxylase deficiency in Jews of Morocco and corticosterone methyl-oxidase II deficiency in Jews of Iran.Semantic proximity Read ↗

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

A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.Semantic proximity Read ↗

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

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

Cosegregation of a novel homozygous CYP11B1 mutation with the phenotype of non-classical congenital adrenal hyperplasia in a consanguineous family.Semantic proximity Read ↗

Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism.Semantic proximity Read ↗

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