PCSK5 variants and corresponding phenotypes in fetal cases with VACTERL association.

PCSK5 variants detected in this study and corresponding phenotypes presented together with PCSK5 variants and phenotypes reported by Szumska et al [18]. Aa-residue numbering according to UniProtKB PCSK5 accession nr Q92824 (aa-numbering used by Szumska et al. shown beneath in parentheses), GT freq. genotype frequency, - not present, na not analysed, ns not stated, *Currarino syndrome diagnosis (MNX1 status not reported), †sacral agenesis, 1patients reported by Szumska et al., 2present also in two healthy sisters with heterozygous and homozygous variants respectively.