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Article

Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.

Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2014

Leccese A, Longo V, Dimatteo C, De Girolamo G, Trunzo R, D'Andrea G, Bafunno V, Margaglione M, Santacroce R

Abstract excerpt

CONTEXT: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, encoded by CYP21A2 gene, is an autosomal recessive disorder. The CYP21A2 gene, localized in a genetic unit defined RCCX module, is considered one of the most polymorphic of human genes. OBJECTIVES: We considered new evidences about the presence of a RCCX trimodular haplotype with a CYP21A2-like gene to explain the lack of a...

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Source

Identifiers

PMID: 25025300
DOI: 10.1016/j.cca.2014.07.009

Genes

TNXB

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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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