Jacobsen, Jessie C Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. [electronic resource] - Case reports in genetics 2015 - 454526 p. digital Publication Type: Journal Article ISSN: 2090-6544 Standard No.: 10.1155/2015/454526 doi