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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Authors :
Acuna-Hidalgo, R
Deriziotis, P
Steehouwer, M
Gilissen, C
Graham, SA
van Dam, S
Hoover-Fong, J
Telegrafi, AB
Destree, A
Smigiel, R
Lambie, LA
Kayserili, H
Altunoglu, U
Lapi, E
Uzielli, ML
Aracena, M
Nur, BG
Mihci, E
Moreira, LMA
Ferreira, VB
Horovitz, D D G
da Rocha, KM
Jezela-Stanek, A
Brooks, Alice
Reutter, H
Cohen, JS
Fatemi, A
Smitka, M
Grebe, TA
Di Donato, N
Deshpande, C
Vandersteen, A
Lourenco, CM
Dufke, A
Rossier, E
Andre, G
Baumer, A
Spencer, C
McGaughran, J
Franke, L
Veltman, JA
de Vries, BBA
Schinzel, A
Fisher, SE
Hoischen, A
van Bon, BW
Acuna-Hidalgo, R
Deriziotis, P
Steehouwer, M
Gilissen, C
Graham, SA
van Dam, S
Hoover-Fong, J
Telegrafi, AB
Destree, A
Smigiel, R
Lambie, LA
Kayserili, H
Altunoglu, U
Lapi, E
Uzielli, ML
Aracena, M
Nur, BG
Mihci, E
Moreira, LMA
Ferreira, VB
Horovitz, D D G
da Rocha, KM
Jezela-Stanek, A
Brooks, Alice
Reutter, H
Cohen, JS
Fatemi, A
Smitka, M
Grebe, TA
Di Donato, N
Deshpande, C
Vandersteen, A
Lourenco, CM
Dufke, A
Rossier, E
Andre, G
Baumer, A
Spencer, C
McGaughran, J
Franke, L
Veltman, JA
de Vries, BBA
Schinzel, A
Fisher, SE
Hoischen, A
van Bon, BW
Source :
Acuna-Hidalgo , R , Deriziotis , P , Steehouwer , M , Gilissen , C , Graham , SA , van Dam , S , Hoover-Fong , J , Telegrafi , AB , Destree , A , Smigiel , R , Lambie , LA , Kayserili , H , Altunoglu , U , Lapi , E , Uzielli , ML , Aracena , M , Nur , BG , Mihci , E , Moreira , LMA , Ferreira , VB , Horovitz , D D G , da Rocha , KM , Jezela-Stanek , A , Brooks , A , Reutter , H , Cohen , JS , Fatemi , A , Smitka , M , Grebe , TA , Di Donato , N , Deshpande , C , Vandersteen , A , Lourenco , CM , Dufke , A , Rossier , E , Andre , G , Baumer , A , Spencer , C , McGaughran , J , Franke , L , Veltman , JA , de Vries , BBA , Schinzel , A , Fisher , SE , Hoischen , A & van Bon , BW 2017 , ' Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies ' , PLoS Genetics (online) , vol. 13 , no. 3 , e1006683 .
Publication Year :
2017

Details

Database :
OAIster
Journal :
Acuna-Hidalgo , R , Deriziotis , P , Steehouwer , M , Gilissen , C , Graham , SA , van Dam , S , Hoover-Fong , J , Telegrafi , AB , Destree , A , Smigiel , R , Lambie , LA , Kayserili , H , Altunoglu , U , Lapi , E , Uzielli , ML , Aracena , M , Nur , BG , Mihci , E , Moreira , LMA , Ferreira , VB , Horovitz , D D G , da Rocha , KM , Jezela-Stanek , A , Brooks , A , Reutter , H , Cohen , JS , Fatemi , A , Smitka , M , Grebe , TA , Di Donato , N , Deshpande , C , Vandersteen , A , Lourenco , CM , Dufke , A , Rossier , E , Andre , G , Baumer , A , Spencer , C , McGaughran , J , Franke , L , Veltman , JA , de Vries , BBA , Schinzel , A , Fisher , SE , Hoischen , A & van Bon , BW 2017 , ' Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies ' , PLoS Genetics (online) , vol. 13 , no. 3 , e1006683 .
Notes :
application/pdf, und
Publication Type :
Electronic Resource
Accession number :
edsoai.on1313620869
Document Type :
Electronic Resource