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The transcription factor FOXL2: At the crossroads of ovarian physiology and pathology

✍ Scribed by Sandrine Caburet; Adrien Georges; David L’Hôte; Anne-Laure Todeschini; Bérénice A. Benayoun; Reiner A. Veitia

Book ID
113796221
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
705 KB
Volume
356
Category
Article
ISSN
0303-7207

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Differential functional effects of novel
Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients
✍ Jeyabalan Nallathambi; Paul Laissue; Frank Batista; Bérénice A. Benayoun; Corinn 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 286 KB

## Mutations of the transcription factor FOXL2, involved in cranio-facial and ovarian development lead to the Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) in human. Here, we describe nine mutations in the open reading frame of FOXL2. Six of them are novel: c.292T>A (p.Trp98Arg), c.32