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Article

Genotype and phenotype in Klinefelter syndrome - impact of androgen receptor polymorphism and skewed X inactivation.

International journal of andrology - 1 Dec 2011

Bojesen A, Hertz J M, Gravholt C H

Abstract excerpt

The phenotypic variation of Klinefelter syndrome (KS) is wide and may by caused by various genetic and epigenetic effects. Skewed inactivation of the supra-numerical X chromosome and polymorphism in the androgen receptor (AR) have been suggested as plausible causes. We wanted to describe X-chromosome inactivation patterns and the AR polymorphism and correlate these to clinical findings in KS in a cross-sectional...

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Source

Identifiers

PMID: 21977989
DOI: 10.1111/j.1365-2605.2011.01223.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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