Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma.
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SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsRare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.Paragangliomas/Pheochromocytomas: clinically oriented genetic testingThe adrenal medulla and extra-adrenal paraganglia: then and now.SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.Malignant phenotype and two SDHD mutations in a family with paraganglioma syndrome type 1.A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).
P2860
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P2860
Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma.
description
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name
Germline SDHA mutation detecte ...... ient with large paraganglioma.
@en
Germline SDHA mutation detecte ...... ient with large paraganglioma.
@nl
type
label
Germline SDHA mutation detecte ...... ient with large paraganglioma.
@en
Germline SDHA mutation detecte ...... ient with large paraganglioma.
@nl
prefLabel
Germline SDHA mutation detecte ...... ient with large paraganglioma.
@en
Germline SDHA mutation detecte ...... ient with large paraganglioma.
@nl
P2093
P356
P1476
Germline SDHA mutation detecte ...... ient with large paraganglioma.
@en
P2093
Jenny Welander
Lars Isaksson
Oliver Gimm
Peter Söderkvist
Rickard Bohnmark
Roger W Wiseman
Stina Garvin
P304
P356
10.1210/JC.2013-1963
P407
P577
2013-06-07T00:00:00Z