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  • Title: Familial pheochromocytomas and paragangliomas: stories from the sign-out room.
    Author: Perren A, Komminoth P.
    Journal: Endocr Pathol; 2006; 17(4):337-44. PubMed ID: 17525482.
    Abstract:
    In this overview we present five patients with apparently sporadic pheochromocytomas or paragangliomas which turned out to be associated with an inheritable familial disease. For each patient a family history together with clinical, morphological, as well as molecular data are reported. The identified syndromes include multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), and familial pheochromocytoma/paraganglioma syndrome (SDHx). A brief summary of phenotypes, the genes involved, and typical mutations in these syndromes is provided.
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