Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.
Lin ZB, Chen ZJ, Yang H, Ding XR, Li J, Pan AP, Sun HS, Yu AY, Chen SH. BMC Ophthalmol. 2023 Nov 7; 23(1):446. Epub 2023 Nov 7.