Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.

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Abstract

The phenotype of familial pheochromocytoma (PHEO) associated with germline TMEM127 mutations (TMEM127-related PHEO) has not been clearly defined.

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Journal

Journal ID (iso-abbrev): J. Clin. Endocrinol. Metab.

Title: The Journal of clinical endocrinology and metabolism

Publisher: The Endocrine Society

ISSN (Electronic): 1945-7197

ISSN (Print): 0021-972X

Publication date (Electronic): Feb 2015

Volume: 100

Issue: 2

Affiliations

[1 ] Divisions of Endocrinology (S.P.A.T., D.M.L.J., T.S.), Urology (A.M.L.), Hypertension and Radiology (M.E.S.B., C.C.C., L.A.B.), and Pathology (M.C.N.Z., S.A.C.S.), University of São Paulo School of Medicine, Hospital das Clínicas and Heart Institute (INCOR), São Paulo 01246-903, Brazil; and Division of Hematology and Oncology, Department of Medicine, Cancer Therapy and Research Center (R.A.T., P.L.M.D.), Greehey Childhood Cancer Research Institute, University of Texas Health Science Center at San Antonio, San Antonio, Texas 78229.

Article

DOI: 10.1210/jc.2014-2473

PubMed ID: 25389632

SO-VID: 526ce0bb-96bc-4bca-b50a-0d2796289f7f

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