In humans, homozygous mutation of RIPK4 have been linked to a lethal autosomal-recessive disorder called Bartsocas-Papas syndrome (BPS), which is typically characterized by loss of epidermal differentiation and exhibits severe ectoderm-originated organ anomalies as seen in mice (Mitchell et al., 2012; Kalay et al., 2012). The gene discussed is RIPK4; the disease is Bartsocas-Papas syndrome 1.