Pathology of the TSH receptor.

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Article

Pathology of the TSH receptor.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Apr 1999

Duprez L, Parma J, Van Sande J, Rodien P, Sabine C, Abramowicz M, Dumont J E, Vassart G

Abstract excerpt

Gain of function and loss of function mutations of the TSH receptor have been implicated in the pathogenesis of various thyroid diseases. Gain of function mutations, when somatic, are the first cause of autonomous nodules; when germline, they are responsible for hereditary non-autoimmune toxic thyroid hyperplasia and for some cases of sporadic congenital hyperthyroidism. A subset of mutations modifying the...

Topics

Adenoma
Germ-Line Mutation
Humans
Hyperthyroidism
Hypothyroidism
Mutation
Receptors, Thyrotropin
Thyroid Neoplasms

Source

Open in PubMed

Identifiers

PMID: 10698593

Provenance

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