European Journal of Human Genetics, 23(3), 292. Nature Publishing Group Eur J Hum Genet Eur J Hum Genet, 2014, 23, pp.292-301. ⟨10.1038/ejhg.2014.95⟩ European Journal of Human Genetics, 23(3), 292-301. Nature Publishing Group European Journal of Human Genetics, 23, 3, pp. 292-301 European Journal of Human Genetics, 23, 292-301 European Journal of Human Genetics, Vol. 23, no.3, p. 292-301 (2014) Paediatrics Publications