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Article

Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma

17 Nov 2016

Abstract excerpt

BACKGROUND: Germline mutations in the SDHD tumour suppressor gene (11q23.1) predispose to phaeochromocytomas and paragangliomas (PPGL) mainly on a paternal transmission. However, PPGL have been recently reported in three carriers of a maternally inherited SDHD mutation. OBJECTIVE: To assess the risk of PPGL occurrence on maternal transmission of SDHD mutation. METHODS: Pedigrees of 80 SDHD-related families have...

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PMID: 27856506
DOI: 10.1136/jmedgenet-2016-104297

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