Similar intracellular structures were also found in skin fibroblasts from three patients carrying SMAD4 mutations responsible for Myhre syndrome (MS) [reported by Piccolo et al, (Piccolo et al., 2014)], a condition with large clinical overlap to GPHYSD (Caputo et al., 2012; Le Goff et al., 2012) (Figure 1a and supplementary Figure 1 in Data S1). Here, SMAD4 is linked to Myhre syndrome.