Associated Papers
Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Li D et al.
Genetic Testing and Molecular Biomarkers, 2009
Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case.
Mari F et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2006
A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation.
Caburet S et al.
Journal of Medical Genetics, 2004
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Crisponi L et al.
Nature Genetics, 2001
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