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Article

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.

BMC medical genetics - 29 Jun 2010

Coeli Fernanda B, Soardi Fernanda C, Bernardi Renan D, de Araújo Marcela, Paulino Luciana C, Lau Ivy F, Petroli Reginaldo J, de Lemos-Marini Sofia H V, Baptista Maria T M, Guerra-Júnior Gil, de-Mello Maricilda P

Abstract excerpt

BACKGROUND: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine Kinase RP, complement C4, steroid 21-hydroxylase CYP21 tenascin TNX, normally, in a duplicated cluster known as RCCX module. The CYP21 extra copy is a pseudogene...

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

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Share to Genes, Recessive

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Identifiers

PMID: 20587039
DOI: 10.1186/1471-2350-11-104
PMCID: PMC3161346

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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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