PEX7 and rhizomelic chondrodysplasia punctata: For example, the clinical recognition that RCDP is most commonly the result of PEX7 mutations is corroborated by the finding that the PEX7, c.875T > A, p.Leu292Ter (rs1805137) mutation has the highest carrier frequency in the US and Europe of all pathogenic and suspected pathogenic variants analyzed and is a commonly identified variant in RCDP patients, including many homozygous [21].