Sprissler, Ryan R; Perkins, Bryce B; Johnstone, Laurel L; Babiker, Hani M HM; Chalasani, Pavani P; Lau, Branden B; Hammer, Michael M; Mahadevan, Daruka D
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.
European Journal Of Human Genetics : Ejhg
Boikos, Sosipatros A SA; Xekouki, Paraskevi P; Fumagalli, Elena E; Faucz, Fabio R FR; Raygada, Margarita M; Szarek, Eva E; Ball, Evan E; Kim, Su Young SY; Miettinen, Markku M; Helman, Lee J LJ; Carney, J Aidan JA; Pacak, Karel K; Stratakis, Constantine A CA
Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.
The American Journal Of Surgical Pathology
Miettinen, Markku M; Killian, Jonathan Keith JK; Wang, Zeng-Feng ZF; Lasota, Jerzy J; Lau, Christopher C; Jones, Laura L; Walker, Robert R; Pineda, Marbin M; Zhu, Yuelin Jack YJ; Kim, Su Y SY; Helman, Lee L; Meltzer, Paul P