Journal of Medical Genetics Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668 Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩ Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩ Journal of medical genetics JOURNAL OF MEDICAL GENETICS