Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutation...
Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
About this item
Full title
Author / Creator
Pasini, Barbara , McWhinney, Sarah R , Bei, Thalia , Matyakhina, Ludmila , Stergiopoulos, Sotirios , Muchow, Michael , Boikos, Sosipatros A , Ferrando, Barbara , Pacak, Karel , Assie, Guillaume , Baudin, Eric , Chompret, Agnes , Ellison, Jay W , Briere, Jean-Jacques , Rustin, Pierre , Gimenez-Roqueplo, Anne-Paule , Eng, Charis , Carney, J Aidan and Stratakis, Constantine A
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
Subjects
More information
Scope and Contents
Contents
Gastrointestinal stromal tumors (GISTs) may be caused by germline mutations of the
KIT
and platelet-derived growth factor receptor-
α
(
PDGFRA
) genes and treated by Imatinib mesylate (STI571) or other protein tyrosine kinase inhibitors. However, not all GISTs harbor these genetic defects and several do not respond to STI571 sugge...
Alternative Titles
Full title
Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
Authors, Artists and Contributors
Author / Creator
McWhinney, Sarah R
Bei, Thalia
Matyakhina, Ludmila
Stergiopoulos, Sotirios
Muchow, Michael
Boikos, Sosipatros A
Ferrando, Barbara
Pacak, Karel
Assie, Guillaume
Baudin, Eric
Chompret, Agnes
Ellison, Jay W
Briere, Jean-Jacques
Rustin, Pierre
Gimenez-Roqueplo, Anne-Paule
Eng, Charis
Carney, J Aidan
Stratakis, Constantine A
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_70101953
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70101953
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/sj.ejhg.5201904
