Figure 2.
Pedigree and mutation analysis of the family. (A, C) Alignment of exon sequences to Hg19 showing SNP in exon 25 of MED12 and intron 1 of EFNB1. (B, D) Chromatogram identified by Sanger sequencing. The top chromatograms are from the fetus, the middle two are from the father, and the bottom two are from the mother.