Wells C, Loundon N, Garabedian N, Wiener-Vacher S, Cordier-Bouvier M, Goudeffroye G, Attié-Bitach T, Marlin S. A case of mild CHARGE syndrome associated with a splice site mutation in CHD7. European Journal of Medical Genetics. 2016 Apr;59(4):195–7. doi: 10.1016/j.ejmg.2016.02.012.