Impact of Screening Kindreds for SDHD p.Cys11X as a Common Mutation Associated with Paraganglioma Syndrome Type 1

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:...

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Hauptverfasser: Pęczkowska, Mariola, Erlic, Zoran, Hoffmann, Michael M., Furmanek, Mariusz, Ćwikła, Jarosław, Kubaszek, Agata, Prejbisz, Aleksander, Szutkowski, Zbigniew, Kawecki, Andrzej, Chojnowski, Krzysztof, Lewczuk, Anna, Litwin, Mieczysław, Szyfter, Witold, Walter, Martin A., Sullivan, Maren, Eng, Charis, Januszewicz, Andrzej, Neumann, Hartmut P. H.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Endocrine Society 2008
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2626452/
https://ncbi.nlm.nih.gov/pubmed/18826997
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2008-1290
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