Skip to main content
Fig. 1 | Human Genomics

Fig. 1

From: Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation

Fig. 1

Pedigrees, facial photographs and Sanger sequencing of the family members. (a) Affected individuals are indicated by filled darkened symbols, and the proband is indicated by upward arrows. Squares and circles indicate males and females, respectively. (b) Sanger sequencing revealed a heterozygous missense mutation in the FOXL2 gene (c.313 A > C: p. N105H) in affected members of this family. The top base sequence serves as the reference base, mutation loci are highlighted with red bounding boxes, and the black arrows point to the mutation sites

Back to article page

Human Genomics

ISSN: 1479-7364