Moreover, the mesenchymal nature of CA cells (Sox10+, Fig. 3F; Fig. S2E,F) and the expression of adipocyte differentiation markers (PDGFRα, Fig. 3D; Fig. S1K,L; Hepler et al., 2017), suggests that the dorsal defect we observed in Vangl2+/Lp embryos may well resemble a lipomyelomeningocele primordium in humans. The gene discussed is PDGFRA; the disease is lipomyelomeningocele.