AKT1 and thanatophoric dysplasia: Functional enrichment analysis with DAVID software (Additional file 3) revealed that the set of genes with increased expression in TD is enriched in Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways of Tryptophan metabolism (map00380), Lysine degradation (map00310), ECM (extracellular matrix)–receptor interaction (map04512), PI3K–Akt (phosphatidylinositol 3-kinase–protein kinase B) signaling pathway (map04151) and focal adhesion (map04510).