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1.	Guillevin, L, et al. (author) Functional impairment of systemic scleroderma patients with digital ulcerations: results from the DUO Registry 2013 In: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY. - 0392-856X. ; 31:2, s. S71-S80 Journal article (other academic/artistic)
2.	Gimm, O, et al. (author) [Prophylactic parathyroidectomy for familial parathyroid carcinoma]. 2006 In: Der Chirurg. - : Springer Science and Business Media LLC. - 0009-4722 .- 1433-0385. ; 77:1, s. 15-24 Journal article (peer-reviewed)abstract In contrast to primary hyperparathyroidism, parathyroid carcinoma is a rare disease. In patients with hyperparathyroidism jaw tumor (HPT-JT) syndrome, caused by germline mutations in HRPT2, the development of parathyroid carcinoma is estimated to be 10-15%. This review summarizes the clinical and molecular genetic data of about 100 patients in the literature and three of our own cases. Unfortunately, osteofibromas, which might enable timely diagnosis of HPT-JT syndrome, occur in only about 30% of patients; about 80% have uniglandular disease. Based on the current data, a general recommendation to perform prophylactic parathyroidectomy cannot be given. However, thorough screening of patients at risk is mandatory. Of note in patients thought to have sporadic parathyroid carcinoma, germline HRPT2 mutations are found in up to 20%. Hence, any patient with parathyroid carcinoma should undergo HRPT2 mutation analysis.

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Type of publication: journal article (2)

Type of content: other academic/artistic (1); peer-reviewed (1)

Author/Editor: Bohm, J. (1); Cole, S. (1); Hamilton, A. (1); Becker, M (1); Baumann, C. (1); Gomez, R. (1); show more...; Schweda, K. (1); Williams, C. (1); Perez, E. (1); Muniz, G (1); Wahl, D. (1); Sassolas, B. (1); Klein, E (1); Weiss, E (1); Mitchell, A. (1); Garcia, E. (1); Costa, J (1); Valentini, G (1); Schmidt, K. (1); Nordin, A (1); Schneider, K. (1); Greco, M. (1); Brodmann, M (1); Dobson, J. (1); Smit, A (1); Giacomelli, R. (1); Bootsma, H. (1); Mathieu, A. (1); Rabe, B. (1); Denton, C (1); Riemekasten, G (1); Simeon, CP (1); Airo, P (1); Herrick, A (1); Madhok, R (1); Kreuter, A (1); Scorza, R (1); Nemec, P (1); Garyfallos, A (1); Podda, M (1); Schaefer, C (1); Santos, P (1); Moore, T (1); Santos, C. (1); Mittag, M (1); Anderson, M. (1); Mayer, L. (1); Cruz, A (1); Boehm, J. (1); Albertsson, K (1); show less...

University: Linköping University (1); Karolinska Institutet (1)

Language: English (1); German (1)

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