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Article

Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma

18 Jan 2023

Abstract excerpt

CONTEXT: Limited information is available concerning the genetic spectrum of pheochromocytoma and paraganglioma (PPGL) patients in South America. Germline SDHB large deletions are very rare worldwide, but most of the individuals harboring the SDHB exon 1 deletion originated from the Iberian Peninsula. OBJECTIVE: Our aim was to investigate the spectrum of SDHB genetic defects in a large cohort of Brazilian...

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PMID: 36652439
DOI: 10.1210/clinem/dgad028

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Related research

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Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With ParagangliomaPMID 36652439Read ↗

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