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Article

Malignant phenotype and two SDHD mutations in a family with paraganglioma syndrome type 1.

Genetics research - 30 Mar 2015

Leidenz Franciele B, Bastos-Rodrigues Luciana, Oliveira Marcelo, Mamede Marcelo, Sarquis Marta, Friedman Eitan, de Marco Luiz

Abstract excerpt

BACKGROUND: Paraganglioma syndrome type 1 (PGL1) is a rare autosomal dominant syndrome associated with multiple, overwhelmingly benign, pheochromocytomas and paragangliomas, attributed to SDHD gene mutations. OBJECTIVE: Clinically and molecularly characterize a family with uncommon malignant phenotype of paragangliomas attributed to two seemingly pathogenic SDHD germline mutations. MATERIALS & METHODS: The...

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Identifiers

PMID: 25819804
DOI: 10.1017/S0016672315000063
PMCID: PMC6863626

Genes

SDHD

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