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

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 phenoty...

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Bibliografiske detaljer
Udgivet i:Genet Res (Camb)
Main Authors: LEIDENZ, FRANCIELE B., BASTOS-RODRIGUES, LUCIANA, OLIVEIRA, MARCELO, MAMEDE, MARCELO, SARQUIS, MARTA, FRIEDMAN, EITAN, DE MARCO, LUIZ
Format: Artigo
Sprog:Inglês
Udgivet: Cambridge University Press 2015
Fag:
Research Papers
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6863626/
https://ncbi.nlm.nih.gov/pubmed/25819804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672315000063
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