Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications

Warner, Janet; Epstein, M; Sweet, A; Singh, D; Burgess, J; Stranks, S; Hill, P; Perry-Keene, D; Learoyd, D; Robinson, B; Birdsey, P; Mackenzie, E; T Teh, B; B Prins, J; Cardinal, J

doi:10.1136/jmg.2003.016725

Public

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications

Published in Journal of Medical Genetics • Mar 1, 2004

Authors:

Janet Warner

M Epstein

A Sweet

Abstract

Familial hyperparathyroidism is not uncommon in clinical endocrine practice. It encompasses a spectrum of disorders including multiple endocrine neoplasia types 1 (MEN1) and 2A, hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH), and familial isolated hyper...

Subject

MEN1

Calcium-sensing receptor

Hyperparathyroidism

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