Titre:
  • Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene
Auteur:Heinrichs, Claudine; Parma, Jasmine; Scherberg, Neal; Delange, François; Van Vliet, G.; Duprez, Laurence; Bourdoux, Pierre; Bergmann, Pierre; Vassart, Gilbert; Refetoff, Samuel
Informations sur la publication:Thyroid, 10, page (387-391)
Statut de publication:Publié, 2000
Sujet CREF:Endocrinologie
MeSH keywords:Adolescent
Amino Acid Sequence -- genetics
Base Sequence -- genetics
Congenital Hypothyroidism
DNA -- genetics
Female
Homozygote
Humans
Hypothyroidism -- blood
Hypothyroidism -- genetics
Molecular Sequence Data
Mutation -- physiology
Thyrotropin -- blood
Thyrotropin -- genetics
Note générale:Case Reports
Journal Article
Research Support, U.S. Gov't, P.H.S.
Langue:Anglais
Identificateurs:urn:issn:1050-7256
info:pmid/10884185
pb-0184