Associated Papers
Three Cases of Carney-Stratakis Syndrome: A Genetically Heterogeneous Disease.
Lobato EC et al.
Jcem Case Reports, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Truncating_Variants
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.
Boikos SA et al.
European Journal of Human Genetics : Ejhg, 2016
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.
Chaturvedi S et al.
Scientifica, 2016
Carney triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria.
Szarek E et al.
Endocrine-related Cancer, 2015
Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).
Bickmann JK et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Inherited gastrointestinal stromal tumor syndromes: mutations, clinical features, and therapeutic implications.
Postow MA et al.
Clinical Sarcoma Research, 2012
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.
Janeway KA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
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.
Pasini B et al.
European Journal of Human Genetics : Ejhg, 2008
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