Article
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
The Journal of clinical endocrinology and metabolism - 1 Jul 2007
Bausch Birke, Borozdin Wiktor, Mautner Victor F, Hoffmann Michael M, Boehm Detlef, Robledo Mercedes, Cascon Alberto, Harenberg Tomas, Schiavi Francesca, Pawlu Christian, Peczkowska Mariola, Letizia Claudio, Calvieri Stefano, Arnaldi Giorgio, Klingenberg-Noftz Rolf D, Reisch Nicole, Fassina Ambrogio, Brunaud Laurent, Walter Martin A, Mannelli Massimo, MacGregor Graham, Palazzo F Fausto, Barontini Marta, Walz Martin K, Kremens Bernhard, Brabant Georg, Pfäffle Roland, Koschker Ann-Cathrin, Lohoefner Felix, Mohaupt Markus, Gimm Oliver, Jarzab Barbara, McWhinney Sarah R, Opocher Giuseppe, Januszewicz Andrzej, Kohlhase Jürgen, Eng Charis, Neumann Hartmut P H
Abstract excerpt
BACKGROUND: Neurofibromatosis type 1 (NF1) is a pheochromocytoma-associated syndrome. Because of the low prevalence of pheochromocytoma in NF1, we ascertained subjects by pheochromocytoma that also had NF1 in the hope of describing the germline NF1 mutational spectra of NF1-related pheochromocytoma. MATERIALS AND METHODS: An international registry for NF1-pheochromocytomas was established. Mutation scanning was...
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