Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
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Publisher
Springer US
Link
http://link.springer.com/content/pdf/10.1007/978-1-4614-1037-9_26.pdf
Reference25 articles.
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2. Amati, P., Chomel, J. C., Nivelon-Chevalier, A., et al. (1995). A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Human Genetics, 96, 213–215.
3. Beaconsfield, M., Walker, J., & Collin, J. (1991). Visual development in the blepharophimosis syndrome. British Journal of Ophthalmology, 75, 746–748.
4. Beckingsale, P. S., Sullivan, T. J., Wong, V. A., et al. (2003). Blepharophimosis: A recommendation for early surgery in patients with severe ptosis. Clinical and Experimental Ophthalmology, 31, 138–142.
5. Beysen, D., Raes, J., Leroy, B. P., et al. (2005). Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. American Journal of Human Genetics, 77, 205–218.
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1. The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome;Genes;2021-03-04
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