Familial Isolated Hyperparathyroidism
Last Posted: Jan 30, 2019
- Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism.
Cristina Eller-Vainicher et al. Best practice & research. Clinical endocrinology & metabolism 2018 Dec 32(6) 861-875
- CLINGEN Actionability Report for Hyperparathyroidism 2 - HPRT2 - CDC73
ClinGen Actionability Working Group
- EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms.
Sanpaolo E, et al. Endocrine 2016 2
- Familial isolated hyperparathyroidism
From NCATS Genetic and Rare Diseases Information Center
- Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.
Guarnieri Vito, et al. The Journal of clinical endocrinology and metabolism 2010 4 (4) 1819-29
- Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.
Vierimaa O, et al. Journal of endocrinological investigation 2009 6 (6) 512-8
- Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.
Warner J, et al. Journal of medical genetics 2004 3 (3) 155-60
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