Résumé
encodes a transcription factor whose mutations are responsible for the Blepharophimosis-Ptosis-Epicanthus inversus Syndrome (BPES), involving craniofacial/palpebral abnormalities often associated with premature ovarian failure (POF).
- Titre
- Functional evidence implicating FOXL2 in non syndromic premature ovarian failure and in the regulation of the transcription factor OSR2
- Créateurs - sans rôle
- Paul Laissue - Institut CochinBesma Lakhal - Department of Cytogenetics and Reproductive BiologyBérénice A Benayoun - Institut CochinAurélie Dipietromaria - Institut CochinRim Braham - Department of EndocrinologyHatem Elghezal - Department of Cytogenetics and Reproductive BiologyPascal Philibert - Service d'hormonologie du développement et de la reproductionAli Saâd - Department of Cytogenetics and Reproductive BiologyCharles Sultan - Service d'hormonologie du développement et de la reproductionMarc Fellous - Institut CochinReiner Veitia - Institut Cochin
- Détails de publication
- Journal of medical genetics, Vol.46(7), pp.455-457
- Éditeur
- BMJ Publishing Group
- Identifiants
- 99139806609311
- Unité académique
- Institut de Génétique Humaine - IGH
- Langue
- English
- Type de ressource
- Journal article