PIKFYVE and thanatophoric dysplasia: Four landscape proteins involved in the conversion of MI derivatives were also differentially expressed: PLCH1 (downregulated in TD striatum [64]), PI4KA (downregulated in the blood of TD patients aged 5–9 [66]), PIKFYVE (upregulated in blood of TD patients aged 13–16 [66]) and IP6K2 (alternatively spliced in the blood of TD patients and blood expression is negatively correlated with TD severity [67,68].