A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis

Klee, Philippe; Bena, Frédérique; Birraux, Jacques Maurice; Dahoun, Sophie; Dirlewanger, Mijam; Girardin, Céline; Plotton, Ingrid; Rougemont-Pidoux, Anne-Laure; Morel, Yves; Schwitzgebel Luscher, Valérie

doi:10.1159/000336925

Scientific article

English

A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis

ContributorsKlee, Philippe

; Bena, Frédérique; Birraux, Jacques Maurice; Dahoun, Sophie; Dirlewanger, Mijam; Girardin, Céline; Plotton, Ingrid; Rougemont-Pidoux, Anne-Laure; Morel, Yves; Schwitzgebel Luscher, Valérie

Published inHormone research in paediatrics, vol. 78, no. 3, p. 188-192

Publication date2012

Abstract

SRY, located on the Y chromosome, is one of the key genes involved in human sex determination. SRY mutations are responsible for 10-15% of all cases of 46,XY gonadal dysgenesis (GD) but are rarely implicated in the pathogenesis of mixed GD.

UNIGE affiliation entities

Faculté de médecine / Section de médecine fondamentale / Département de pathologie et immunologie

UNIGE research groups

Citation (ISO format)

KLEE, Philippe et al. A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis. In: Hormone research in paediatrics, 2012, vol. 78, n° 3, p. 188–192. doi: 10.1159/000336925

Article (Published version)

Identifiers

PID : unige:27579
DOI : 10.1159/000336925
PMID : 22441105

Journal ISSN1663-2818

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A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis

SRY, located on the Y chromosome, is one of the key genes involved in human sex determination. SRY mutations are responsible for 10-15% of all cases of 46,XY gonadal dysgenesis (GD) but are rarely implicated in the pathogenesis of mixed GD.

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