Examples include an intronic Alu insertion disrupting function of the NF1 tumour suppressor and causing clinical neurofibromatosis [49] and a small number of independent Alu insertions affecting fibroblast growth factor receptor 2 (FGFR2) and causing malformations with craniosynostosis categorized as Apert syndrome [50,51]. The gene discussed is FGFR2; the disease is Apert syndrome.