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Article

CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Aug 1996

Geley S, Kapelari K, Jöhrer K, Peter M, Glatzl J, Vierhapper H, Schwarz S, Helmberg A, Sippell W G, White P C, Kofler R

Abstract excerpt

Accurate knowledge of the molecular basis of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a prerequisite for genetic counseling, prenatal diagnosis, and treatment. Analysis of nine patients suffering from severe manifestations of this disorder led to the identification...

Topics

Adrenal Hyperplasia, Congenital
Base Sequence
Child
Codon
DNA Transposable Elements
Female
Humans
Iran
Jews
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oligonucleotide Probes

Prenatal Diagnosis

Steroid 11-beta-Hydroxylase

Source

Identifiers

PMID: 8768848
DOI: 10.1210/jcem.81.8.8768848

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8768848-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.PMID 8768848Read ↗

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