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Start Over Author "Baere, Elfride De" Journal human molecular genetics
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1. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation.

Author

Baere, Elfride De, Dixon, Michael J., Small, Kent W., Jabs, Ethylin W., Leroy, Bart P., Devriendt, Koenraad, Gillerot, Yves, Mortier, Geert, Meire, Françoise, Maldergem, Lionel Van, Courtens, Winnie, Hjalgrim, Helle, Huang, Shangzhi, Liebaers, Inge, Regemorter, Nicole Van, Praphanphoj, Verayuth, Verloes, Alain, Udar, Nitin, Yellore, Vivek, and Chalukya, Meenal

Abstract

Demonstrates a genotype-phenotype correlation by the mutations of FOXL2 gene, a forkhead transcription factor gene, in blepharophimosis-ptosis-epicanthus inversus (BPES). Identification of novel mutations in the FOXL2 gene in BPES types I and II families, in sporadic BPES patients and in BPES families where the type could not be established.

Published
2001
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