Simonds WF. Genetics of hyperparathyroidism, including parathyroid cancer. Endocrinol Metab Clin North Am. 2017;46(2):405–18.

Article  PubMed  PubMed Central  Google Scholar 

Swaminathan N, Kasmirski JA, Gillis A, Lindeman B, Dream S, Chen H. From genes to glands: the genetic framework of parathyroid syndromes. Surgical Oncology Insight. 2025. https://doi.org/10.1016/j.soi.2025.100143.

Article  Google Scholar 

Blau JE, Simonds WF. Familial hyperparathyroidism. Front Endocrinol (Lausanne). 2021;12:623667.

Article  PubMed  Google Scholar 

Gill AJ, Lim G, Cheung VKY, Andrici J, Perry-Keene JL, Paik J, et al. Parafibromin-deficient (HPT-JT type, CDC73 mutated) parathyroid tumors demonstrate distinctive morphologic features. Am J Surg Pathol. 2019;43(1):35–46.

Article  PubMed  Google Scholar 

Piciu D, Piciu A, Barbus E, Pestean C, Larg MI, Fetica B. Primary hyperparathyroidism-jaw tumor syndrome: a confusing and forgotten diagnosis. Med Pharm Rep. 2016;89(4):555–8.

Article  Google Scholar 

du Preez H, Adams A, Richards P, Whitley S. Hyperparathyroidism jaw tumour syndrome: a pictoral review. Insights Imaging. 2016;7(6):793–800.

Article  PubMed  PubMed Central  Google Scholar 

Le Collen L, Barraud S, Braconnier A, Coppin L, Zachar D, Boulagnon C, et al. A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features. Endocrine. 2021;73(3):693–701.

Article  PubMed  Google Scholar 

Torresan F, Iacobone M. Clinical features, treatment, and surveillance of hyperparathyroidism-jaw tumor syndrome: an up-to-date and review of the literature. Int J Endocrinol. 2019;2019:1761030.

Article  PubMed  PubMed Central  Google Scholar 

Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D, Chen J, et al. Hrpt2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet. 2003;40(9):657–63.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wijewickrama PSA, Somasundaram NP. Hyperparathyroidism jaw tumor syndrome presenting as recurrent femur fractures in a young woman; a rare presentation of a rare disease. Case Rep Endocrinol. 2020;2020:9298147.

Article  PubMed  PubMed Central  Google Scholar 

Weaver TD, Shakir MKM, Hoang TD. Hyperparathyroidism-jaw tumor syndrome. Case Rep Oncol. 2021;14(1):29–33.

Article  PubMed  PubMed Central  Google Scholar 

Khan MM, Fazli H, Bilal Khan T, Tehrany PM, Bacani N. Hyperparathyroidism jaw-tumor syndrome: a case report from a radiological view. Cureus. 2022;14(8):e28329.

PubMed  PubMed Central  Google Scholar 

Kang JR, Burlew J, Paulus A, Kluesner J. Recurrent primary hyperparathyroidism in hyperparathyroid jaw tumor syndrome: a case report. Cureus. 2023;15(7):e42732.

PubMed  PubMed Central  Google Scholar 

Zama A, Kruger EC, Zemlin AE, Conradie M. Hyperparathyroidism jaw tumor syndrome, an unforeseen diagnosis. JCEM Case Rep. 2024;2(3):luae020.

Article  PubMed  PubMed Central  Google Scholar 

Johnsen PS, Madsen M, Nyland AN, Al-Shibli K, Frid P. Hyperparathyroidism-jaw tumor syndrome: a case diagnosed after the removal of multiple ossifying fibromas of the jaws. JCEM Case Reports. 2025;3(4):luaf049.

Article  PubMed  PubMed Central  Google Scholar