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Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?

par Gagné, N;Parma, Jasmine ;Deal, C.;Vassart, Gilbert ;Van Vliet, G.
Référence The Journal of clinical endocrinology and metabolism, 83, 5, page (1771-1775)
Publication Publié, 1998-05

Article révisé par les pairs

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Titre:	Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?
Auteur:	Gagné, N; Parma, Jasmine; Deal, C.; Vassart, Gilbert; Van Vliet, G.
Informations sur la publication:	The Journal of clinical endocrinology and metabolism, 83, 5, page (1771-1775)
Statut de publication:	Publié, 1998-05
Sujet CREF:	Sciences bio-médicales et agricoles
MeSH keywords:	Amino Acid Sequence
	Choristoma
	Congenital Hypothyroidism
	DNA Mutational Analysis
	Heterozygote
	Humans
	Hypothyroidism -- genetics
	Infant, Newborn
	Leukocytes -- chemistry
	Male
	Molecular Sequence Data
	Mutation
	Pedigree
	Polymerase Chain Reaction
	RNA, Messenger -- blood
	RNA-Directed DNA Polymerase
	Receptors, Thyrotropin -- chemistry
	Receptors, Thyrotropin -- genetics
	Thyroglobulin -- blood
	Thyroid Gland
Note générale:	Case Reports
	Journal Article
	Research Support, Non-U.S. Gov't
Langue:	Anglais
Identificateurs:	urn:issn:0021-972X
	info:pmid/9589691