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Fig. 1 | BMC Ophthalmology

Fig. 1

From: Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family

Fig. 1

Pedigree and variants identified in a rare BPES family. a The pedigree shows the affected (II:1 and I:2) and unaffected (I:1) family members. Black arrow indicates the proband (II:1). b Red arrow refers to the start point of the inframeshift variant of both proband (II:1) and affected family member (I:2). Abbreviations: WT, wild-type; MUT, mutant

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BMC Ophthalmology

ISSN: 1471-2415

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