TY  - JOUR 
AU  - Wimmer, K.
AU  - Kratz, C. P.
AU  - Vasen, H. F.
AU  - Caron, O.
AU  - Colas, C.
AU  - Entz-Werle, N.
AU  - Gerdes, A. M.
AU  - Goldberg, Y.
AU  - Ilencikova, D.
AU  - Muleris, M.
AU  - Duval, A.
AU  - Lavoine, N.
AU  - Ruiz Ponte, Clara
AU  - Slavc, I.
AU  - Burkhardt, B.
AU  - Brugieres, L.
PY  - 2014
SN  - 0022-2593
UR  - http://hdl.handle.net/20.500.11940/6988
AB  - Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6 or PMS2. The tumour spectrum is very broad,...
LA  - eng
KW  - Brain Neoplasms
KW  - Colorectal Neoplasms
KW  - Colorectal Neoplasms, Hereditary Nonpolyposis
KW  - Europe
KW  - Humans
KW  - Neoplastic Syndromes, Hereditary
KW  - Pigmentation Disorders
KW  - CMMRD syndrome
TI  - Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD)
DO  - 10.1136/jmedgenet-2014-102284
T2  - JOURNAL OF MEDICAL GENETICS
M2  - 355
KW  - FPGMX
VL  - 51
ER  -