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Article

Monozygotic twins discordant for congenital adrenal hyperplasia due to mosaicism.

European journal of endocrinology - 1 Feb 2020

Kluge Michelle L, Graber Evan, Foley Kathryn, Hansen Lynnette V, Sellers Heidi L, Milosevic Dragana, Cradic Kendall W, Grebe Stefan K

Abstract excerpt

INTRODUCTION: Genotype-phenotype discordance occurs occasionally in congenital adrenal hyperplasia (CAH). Its causes are largely unknown. We describe a case of monochorionic, diamniotic twins with discordant clinical presentations of CAH, and show evidence for this being due to mosaicism resulting from a postzygotic full gene deletion of CYP21A2 prior to twinning. CASE DESCRIPTION: A 7-day-old 36-week gestation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 31804968
DOI: 10.1530/EJE-19-0249

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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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