Considering the roles of BMP and RA in somitogenesis and their demonstrated downstream effects on APOC1 protein 36, we can infer that the down‐regulated expression of APOC1 protein in our study and the occurrence of CS are two concurrent phenotypes caused, at least in part, by dysregulation of some common upstream signallings such as RA and BMP. Here, APOC1 is linked to Cowden syndrome 1.