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 clin. manifestations of the two diseases are presented, together with the most relevant findings on their physiopathol. and genetics.

Reflections on the diseases linked to mutations of the androgen receptor / A. Poletti, P. Negri-Cesi, L. Martini. - In: ENDOCRINE. - ISSN 1355-008X. - 28:3(2005), pp. 243-262. [10.1385/ENDO:28:3:243]

Reflections on the diseases linked to mutations of the androgen receptor

A. Poletti
Primo
;
P. Negri-Cesi
Secondo
;
L. Martini
Ultimo
2005

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 clin. manifestations of the two diseases are presented, together with the most relevant findings on their physiopathol. and genetics.
Androgen receptor; AR; Brain sexual differentiation; CAIS; Complete androgen insensitivity syndrome; Kennedy's disease; SBMA; Spinal and bulbar muscular atrophy
Settore BIO/13 - Biologia Applicata
Settore BIO/09 - Fisiologia
2005
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/5147
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