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Title

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

Authors
Bena, Frédérique
Girardin, Céline
Plotton, Ingrid
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Published in Hormone Research in Paediatrics. 2012, vol. 78, no. 3, p. 188-92
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.
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PMID: 22441105
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Research groups Etude des altérations du gène ATM dans divers cancers de l'enfant (178)
Métastases du foie (657)
Groupe Wildhaber Barbara (chirurgie pédiatrique) (886)
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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. 188-92. https://archive-ouverte.unige.ch/unige:27579

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Deposited on : 2013-04-26

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