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Familial hyperthyroidism due to mutations in TSH receptor
A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
ORPHA:424Classification level: Disorder
A summary on this disease is available in Deutsch (2004) Italiano (2004) Français (2014) Nederlands (2014)
- Guidance for genetic testing
- Français (2016, pdf) - ANPGM
: produced/endorsed by FSMR(s)
Further information on this disease
Patient-centred resources for this disease
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Specialised Social Services
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