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ea0099oc11.1 | Oral Communications 11: Adrenal and Cardiovascular Endocrinology | Part II | ECE2024

Germline DNA methylation analysis reveals distinct alterations in a large cohort of patients with germline SDHB pathogenic variant

Halperin Reut , Horwitz Roi , Jabarin Amna , Tirosh Amit

Patients with germline pathogenic variant (PV) in the SDHB gene (Paraganglioma syndrome type 4, PPGL4) have a high-risk of developing paragangliomas and pheochromocytomas. PPGL4 has increased risk for aggressive and metastatic abdominal-thoracic paragangliomas compared with other paraganglioma syndromes.Aims: To assess possible germline DNA epigenetic alterations in patients harboring the SDHB PV.Materials and Met...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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