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FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
PURPOSE: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder where eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). It is ascribed to mutations in the forkhead transcriptional factor2 (FOXL2) gene. The purpos...
| Autores principales: | , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2007
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2533039/ https://www.ncbi.nlm.nih.gov/pubmed/17277738 |