PEX7 and Refsum disease: The p.Tyr40Ter stop-gain variant, introduces a premature stop codon in the N-terminal region of the peroxin 7 protein, and was previously reported in 2 patients diagnosed with rhizomelic chondrodysplasia punctate (RCDP) in whom a second variant was not identified, and in 2 individuals with compound heterozygosity PEX7 variants, who were diagnosed with the Refsum disease [17,18].