Total: 1 |
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PMID (PMCID) | ||
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16283882 |
FEMALE | Infant |
Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation. | ||
Vincent AL, Watkins WJ, Sloan BH, Shelling AN. Clin Genet. 2005;68(6):520-3. |
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This case describes the novel coexistence of sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and bilateral type I Duane syndrome in a female infant, with a FOXL2 mutation. |