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- Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiencyHelen Toledano, Naama Orenstein, Efrat Sofrin, Noa Ruhrman-Shahar, Gil Amarilyo, Lina Basel-Salmon, Alan R Shuldiner, Pola Smirin-Yosef, Melyssa Aronson, Hibs Al-tarrah, Lili Bazak, Claudia Gonzaga-Jauregui, Uri Tabori, Katharina Wimmer, Yael GoldbergJournal of Medical Genetics Jul 2020, 57 (7) 505-508; DOI: 10.1136/jmedgenet-2019-106303
- Constitutional mismatch repair deficiency syndrome: clinical description in a French cohortN 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 BrugièresJournal of Medical Genetics Nov 2015, 52 (11) 770-778; DOI: 10.1136/jmedgenet-2015-103299
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