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Article

Familial carotid body tumors in patients with SDHD mutations: a case series.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Jan 2000

Kapoor Nitin, Pai Rekha, Ebenazer Andrew, Sen Indrani, Stephen Edwin, Agarwal Sunil, Paul M J, Rajaratnam Simon

Abstract excerpt

OBJECTIVE: To describe a family with hereditary paraganglioma due to a disease-causing mutation in the SDHD gene. METHODS: We present the clinical findings, diagnostic test results, treatment, and genetic test results in a family with hereditary paraganglioma. RESULTS: Three siblings with bilateral carotid body tumors presented at different time points and with varied clinical presentations. While the proband, a...

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Identifiers

PMID: 22441002
DOI: 10.4158/EP12012.CR

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SDHD

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