Familial parathyroid tumours—comparison of clinical profiles between syndromes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s40618-023-02032-4.pdf
Reference23 articles.
1. Blau JE, Simonds WF (2021) Familial hyperparathyroidism. Front Endocrinol (Lausanne) 12:1–14. https://doi.org/10.3389/fendo.2021.623667
2. Khairi S, Osborne J, Jacobs MF et al (2020) Outcome of clinical genetic testing in patients with features suggestive for hereditary predisposition to PTH-mediated hypercalcemia. Horm Cancer 11:250–255. https://doi.org/10.1007/s12672-020-00394-2
3. Eller-Vainicher C, Falchetti A (2018) Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism. Best Pract Res Clin Endocrinol Metab 32:861–875. https://doi.org/10.1016/j.beem.2018.09.010
4. Mariathasan S, Andrews KA, Thompson E et al (2020) Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort. Clin Endocrinol (Oxf) 93:409–418. https://doi.org/10.1111/cen.14254
5. Thakker RV (2016) Genetics of parathyroid tumours. J Intern Med 280:574–583. https://doi.org/10.1111/joim.12523
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1. Familial states of primary hyperparathyroidism: an update;Journal of Endocrinological Investigation;2024-04-18
2. Insights into Hyperparathyroidism–Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours;International Journal of Molecular Sciences;2024-02-15
3. A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas;Journal of Endocrinological Investigation;2024-01-31
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