Article
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.
The Journal of clinical endocrinology and metabolism - 1 Dec 2008
Peczkowska Mariola, Erlic Zoran, Hoffmann Michael M, Furmanek Mariusz, Cwikla Jaroslaw, Kubaszek Agata, Prejbisz Aleksander, Szutkowski Zbigniew, Kawecki Andrzej, Chojnowski Krzysztof, Lewczuk Anna, Litwin Mieczyslaw, Szyfter Witold, Walter Martin A, Sullivan Maren, Eng Charis, Januszewicz Andrzej, Neumann Hartmut P H
Abstract excerpt
CONTEXT AND OBJECTIVE: Germline mutations of the genes SDHB, SDHC, and SDHD predispose to paraganglioma syndromes. Mutation-specific counseling, risk assessment, and management recommendations ideally should be performed. Here, we provide data for a single common mutation of the SDHD gene. METHODS: The European-American Pheochromocytoma-Paraganglioma Registry served as the source for unrelated index cases...
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