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Familial Isolated Hyperparathyroidism Is Rarely Caused by Germline Mutation in<i>HRPT2</i>, the Gene for the Hyperparathyroidism-Jaw Tumor Syndrome

1 Jan 2004

Abstract excerpt

Familial isolated hyperparathyroidism (FIHP) can result occasionally from the incomplete expression of a syndromic form of familial hyperparathyroidism (HPT), specifically multiple endocrine neoplasia type 1 (MEN1), familial hypocalciuric hypercalcemia, or the hyperparathyroidism-jaw tumor syndrome (HPT-JT). The cause of FIHP has not been identified in the majority of families. We investigated 32 families with...

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Identifiers

PMID: 14715834
DOI: 10.1210/jc.2003-030675

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