Article
Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation.
Journal of endocrinological investigation - 1 Sept 2002
Arturi F, Chiefari E, Tumino S, Russo D, Squatrito S, Chazenbalk G, Persani L, Rapoport B, Filetti S
Abstract excerpt
Constitutively activating germline mutations of the TSH receptor (TSH-R) are considered the cause of hereditary non-autoimmune hyperthyroidism. In this study, 10 members (8 affected and 2 unaffected) of an Italian family with hereditary non-autoimmune hyperthyroidism were investigated for the presence of mutations in the TSH-R gene. The clinical features of the disease were also analyzed. PCR-amplified fragments...
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