Article
Identification of copy number variants associated with BPES-like phenotypes.
Human genetics - 1 Dec 2008
Gijsbers Antoinet C J, D'haene Barbara, Hilhorst-Hofstee Yvonne, Mannens Marcel, Albrecht Beate, Seidel Joerg, Witt David R, Maisenbacher Melissa K, Loeys Bart, van Essen Ton, Bakker Egbert, Hennekam Raoul, Breuning Martijn H, De Baere Elfride, Ruivenkamp Claudia A L
Abstract excerpt
Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) is a well-characterized rare syndrome that includes an eyelid malformation associated with (type I) or without premature ovarian failure (type II). Patients with typical BPES have four major characteristics: blepharophimosis, ptosis, epicanthus inversus and telecanthus. Mutations in the FOXL2 gene, encoding a forkhead transcription factor, are...
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