Titre :
  • Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
Auteur : Abramowicz, Marc ; Duprez, Laurence ; Parma, Jasmine ; Vassart, Gilbert ; Heinrichs, Claudine
Informations sur la publication : The Journal of clinical investigation, 99, 12, (page 3018-3024)
Statut de publication : Publié, 1997-06
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés : Congenital hypothyroidism
Thyroglobulin
Thyroid agenesis
Thyrotropin receptor
Mots-clés MeSH : Base Sequence
Binding Sites
Congenital Hypothyroidism
Consanguinity
Female
Flow Cytometry
Homozygote
Humans
Hypothyroidism -- genetics
Hypothyroidism -- pathology
Infant, Newborn
Male
Mutation
Pedigree
Receptors, Thyrotropin -- genetics
Receptors, Thyrotropin -- metabolism
Second Messenger Systems
Thyroid Gland -- abnormalities
Thyrotropin -- metabolism
Transfection
Note : Case Reports
Journal Article
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
Langue :
  • Anglais
Identificateurs : urn:issn:0021-9738 
info:doi/10.1172/JCI119497
info:pmid/9185526
info:pmcid/PMC508154