Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

<div>Family pedigree and transmission of the c.694C&gt;T and c.875T&gt;A mutations in the<i> PEX7</i> gene. The arrow identifies case 1. Protein genotypes are indicated immediately below each family member’s pedigree symbol, and Sanger sequencing electropherograms for both loci are shown below the corresponding family member in the lower part of the figure. The couple’s seven miscarriages are not depicted. WT, wild-type allele.</div>

Case Reports in Genetics

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Figure 1

Figure 1: Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1 

Figure 1 | Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1 