Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
N Lavoine, C Colas, M Muleris, S Bodo, A Duval, N Entz-Werle, F Coulet, O Cabaret, F Andreiuolo, C Charpy, G Sebille, Q Wang, S Lejeune, M P Buisine, D Leroux, G Couillault, G Leverger, J P Fricker, R Guimbaud, M Mathieu-Dramard, G Jedraszak, O Cohen-Hagenauer, L Guerrini-Rousseau, F Bourdeaut, J Grill, O Caron, S Baert-Dusermont, J Tinat, G Bougeard, T Frébourg, L Brugières
Journal of Medical Genetics Nov 2015, 52 (11) 770-778; DOI: 10.1136/jmedgenet-2015-103299