[Activating mutations of the TSH receptor: a synthesis highlighting certain pediatric aspects].

doi:10.1016/s0929-693x(99)80194-8

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Article

[Activating mutations of the TSH receptor: a synthesis highlighting certain pediatric aspects].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jan 1998

Polak M

Abstract excerpt

Mutations of the TSH receptor gene cause constitutive activation of the TSH receptor responsible for cases of familial hereditary hyperthyroidism (germline mutations), cases of sporadic congenital hyperthyroidism (de novo mutations), and thyroid hyperfunctioning autonomous adenomas (somatic mutat...

Topics

Adenoma
Humans
Hyperthyroidism
Mutation
Phenotype
Receptors, Thyrotropin
Thyroid Neoplasms

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