European Journal of Medical Genetics European Journal of Medical Genetics, Elsevier, 2018, 61 (11), pp.664-673. ⟨10.1016/j.ejmg.2017.10.017⟩ European Journal of Medical Genetics, 61(11), 664. Elsevier Masson SAS European journal of medical genetics, 61(11), 664-673. Elsevier Masson SAS