Article
Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.
European journal of endocrinology - 1 Feb 2018
Gieldon Laura, Masjkur Jimmy Rusdian, Richter Susan, Därr Roland, Lahera Marcos, Aust Daniela, Zeugner Silke, Rump Andreas, Hackmann Karl, Tzschach Andreas, Januszewicz Andrzej, Prejbisz Aleksander, Eisenhofer Graeme, Schrock Evelin, Robledo Mercedes, Klink Barbara
Abstract excerpt
OBJECTIVE: Our objective was to improve molecular diagnostics in patients with hereditary pheochromocytoma and paraganglioma (PPGL) by using next-generation sequencing (NGS) multi-gene panel analysis. Derived from this study, we here present three cases that were diagnosed with NF1 germline mutations but did not have a prior clinical diagnosis of neurofibromatosis type 1 (NF1). DESIGN: We performed genetic...
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