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Review
. 2005 Dec;28(3):243-62.
doi: 10.1385/ENDO:28:3:243.

Reflections on the diseases linked to mutations of the androgen receptor

Angelo Poletti  1 , Paola Negri-Cesi, Luciano Martini
Affiliations
Review

Reflections on the diseases linked to mutations of the androgen receptor

Angelo Poletti et al. Endocrine. 2005 Dec.

Abstract

This review summarizes the most recent information on two pathologies linked to mutations of the androgen receptor, namely, the complete androgen insensitivity syndrome (CAIS) and the spinal and bulbar muscular atrophy (SBMA or Kennedy's disease). Data on the clinical manifestations of the two diseases are presented, together with the most relevant findings on their physiopathology and genetics.

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