Familial Isolated Hyperparathyroidism with CDC73 Mutation
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Publisher
Springer Nature Singapore
Link
https://link.springer.com/content/pdf/10.1007/978-981-99-0938-4_22
Reference18 articles.
1. Simonds WF, James-Newton LA, Agarwal SK, Yang B, Skarulis MC, Hendy GN, et al. Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Medicine. 2002;81(1):1–26.
2. Simonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ. Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metabol. 2004;89(1):96–102.
3. Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 2004;41(3):155–60.
4. Starker LF, Åkerström T, Long WD, Delgado-Verdugo A, Donovan P, Udelsman R, et al. Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism. Horm Cancer. 2012;3(1):44–51.
5. Cristina E-V, Alberto F. 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. 2018;32(6):861–75.
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