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Article

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

The Journal of clinical endocrinology and metabolism - 1 Feb 2015

Toledo Sergio P A, Lourenço Delmar M, Sekiya Tomoko, Lucon Antonio M, Baena Marcos E S, Castro Claudio C, Bortolotto Luiz A, Zerbini Maria C N, Siqueira Sheila A C, Toledo Rodrigo A, Dahia Patricia L M

Abstract excerpt

CONTEXT: The phenotype of familial pheochromocytoma (PHEO) associated with germline TMEM127 mutations (TMEM127-related PHEO) has not been clearly defined. OBJECTIVE: This study aimed to investigate the penetrance, full phenotypic spectrum and effectiveness of clinical/genetic screening in TMEM127-related PHEO. DESIGN, SETTING, AND PARTICIPANTS: Clinical and genetic screening, and genetic counseling were offered...

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Identifiers

PMID: 25389632
DOI: 10.1210/jc.2014-2473

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.PMID 25389632Read ↗

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