Article
Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis.
The Journal of clinical endocrinology and metabolism - 1 Feb 2016
Korpershoek Esther, Koffy Djamailys, Eussen Bert H, Oudijk Lindsey, Papathomas Thomas G, van Nederveen Francien H, Belt Eric J T, Franssen Gaston J H, Restuccia David F J, Krol Niels M G, van der Luijt Rob B, Feelders Richard A, Oldenburg Rogier A, van Ijcken Wilfred F J, de Klein Annelies, de Herder Wouter W, de Krijger Ronald R, Dinjens Winand N M
Abstract excerpt
CONTEXT: Familial pheochromocytoma (PCC) has been associated with germline mutations in 16 genes. Here we investigated three siblings presenting with bilateral pheochromocytomas. In addition, the index patient also exhibited renal oncocytoma and erythrocytosis, whereas the second sibling presented with a lymph node metastasis. DESIGN: First, single-nucleotide polymorphism array and exome sequencing were performed...
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