The tissue-specific pathology in AD/CMRD patients could arise from mutations in components of paralogue- and cargo-specific mechanisms of transport analogous to other diseases associated with secretory pathway components (cranio-lenticulo-sutural dysplasia CLSD [21] and congenital dyserythropoietic anemia type II, CDAII, [22] in humans and craniorachischisis in mice [23]). Here, SEC23B is linked to Congenital dyserythropoietic anemia type II.