Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
About this item
Full title
Author / Creator
Lavoine, N , Colas, C , Muleris, M , Bodo, S , Duval, A , Entz-Werle, N , Coulet, F , Cabaret, O , Andreiuolo, F , Charpy, C , Sebille, G , Wang, Q , Lejeune, S , Buisine, M P , Leroux, D , Couillault, G , Leverger, G , Fricker, J P , Guimbaud, R , Mathieu-Dramard, M , Jedraszak, G , Cohen-Hagenauer, O , Guerrini-Rousseau, L , Bourdeaut, F , Grill, J , Caron, O , Baert-Dusermont, S , Tinat, J , Bougeard, G , Frébourg, T and Brugières, L
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group LTD
Subjects
More information
Scope and Contents
Contents
BackgroundConstitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far.MethodsRetrospective review of all 31 patients with CMMRD diagnosed in French genetics laboratories in order to describe the characteristics, t...
Alternative Titles
Full title
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
Authors, Artists and Contributors
Author / Creator
Colas, C
Muleris, M
Bodo, S
Duval, A
Entz-Werle, N
Coulet, F
Cabaret, O
Andreiuolo, F
Charpy, C
Sebille, G
Wang, Q
Lejeune, S
Buisine, M P
Leroux, D
Couillault, G
Leverger, G
Fricker, J P
Guimbaud, R
Mathieu-Dramard, M
Jedraszak, G
Cohen-Hagenauer, O
Guerrini-Rousseau, L
Bourdeaut, F
Grill, J
Caron, O
Baert-Dusermont, S
Tinat, J
Bougeard, G
Frébourg, T
Brugières, L
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_02356405v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02356405v1
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2015-103299
