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Article

Unexpectedly high mutation rate of cyp11b1 compared to cyp21a2 in randomly-selected turkish women: a large screening study.

Journal of endocrinological investigation - 1 Nov 2023

Polat S, Karaburgu S, Unluhizarci K, Dundar M, Ozkul Y, Arslan Y K, Karaca Z, Kelestimur F

Abstract excerpt

PURPOSE: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from enzyme deficiencies associated with steroidogenesis. The clinical presentation of non-classic CAH (NCAH) in females is often indistinguishable from other hyperandrogenic disorders like polycystic ovary syndrome (PCOS). The data on the prevalence of NCAH in unselected women in the literature is scanty. The...

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Share to Adrenal Hyperplasia, Congenital
Share to Cytochrome P-450 CYP11B2

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Mutation Rate

Share to Steroid 11-beta-Hydroxylase

Share to Steroid 21-Hydroxylase

Source

Identifiers

PMID: 37055708
DOI: 10.1007/s40618-023-02093-5

Genes

CYP21A2
CYP11B1
GC
CYP11B2

Provenance

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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Unexpectedly high mutation rate of cyp11b1 compared to cyp21a2 in randomly-selected turkish women: a large screening study.PMID 37055708Read ↗

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