Interestingly, homozygous loss-of-function mutations in EIF2AK3, encoding PERK, cause a similar phenotype, i.e. Wolcott-Rallison syndrome (OMIM#226980), characterized by neonatal diabetes associated with skeletal dysplasia and/or episodes of acute liver failure (Delépine et al., 2000; Biason-Lauber et al., 2002). This evidence concerns the gene EIF2AK3 and skeletal dysplasia.