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Article

Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome.

The Journal of clinical endocrinology and metabolism - 1 Sept 2005

Zinn Andrew R, Ramos Purita, Elder Frederick F, Kowal Karen, Samango-Sprouse Carole, Ross Judith L

Abstract excerpt

CONTEXT: Klinefelter syndrome (KS; 47,XXY karyotype and variants) is characterized by tall stature and testicular failure, with marked variation in severity of the phenotype. Previous studies have proposed that genetic factors including mosaicism, parental origin of the supernumerary X-chromosome, skewed X inactivation, and androgen receptor (AR) polyglutamine repeat length may contribute to phenotypic...

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Identifiers

PMID: 15956082
DOI: 10.1210/jc.2005-0432

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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