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Article

[Molecular study of CYP21A2 gene for prenatal diagnosis of congenital adrenal hyperplasia. Report of a family].

Revista medica de Chile - 1 Nov 2007

Merino Paulina, Bachega Tania, Céspedes Pablo, Trejo León, Billerbeck Ana Elisa, Codner Ethel

Abstract excerpt

Prenatal treatment of pregnancies at risk of congenital adrenal hyperplasia (CAH) may prevent ambiguous genitalia in female fetuses. We present the prenatal treatment performed in an extended family with two mutations. The proband, a boy with CAH-salt losing form, and his relatives were studied. The proband's paternal uncles/aunts were married to the maternal aunts/uncles, respectively. The relatives had normal...

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Source

Identifiers

PMID: 18259657
DOI: /S0034-98872007001100012

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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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