That the predicted p.Gln566fsX94 mutation is associated with a skin phenotype may mirror the complementary effects of the mutant ΔNp63α isoform on the transcription of developmental genes, such as BAX. The transcriptional activity profile of the predicted p.Gln566fsX94 mutation, in contrast to that for p.Gln634X, may be shared with other C-terminus mutations causing RHS and AEC syndrome, which lack limb malformations [Clements et al., 2010]. The gene discussed is BAX; the disease is leukocyte adhesion deficiency type II.