Browsing by Author "Tuthill, Antoinette"

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    • Universal genetic screening uncovers a novel presentation of an sdhaf2 mutation 

      Casey, Ruth; Garrahy, Aoife; Tuthill, Antoinette; O'Halloran, Domhnall; Joyce, Caroline; Casey, Mary B.; O'Shea, Paula; Bell, Marcia (The Endocrine Society, 2014-07-01)
      Context: Hereditary pheochromocytoma/paraganglioma (PC/PGL) accounts for up to 60% of previously considered sporadic tumors. Guidelines suggest that phenotype should guide genetic testing. Next-generation sequencing ...