Titre:
  • A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene.
Auteur:Bretones, P; Duprez, Laurence; Parma, Jasmine; David, M; Vassart, Gilbert; Rodien, P
Informations sur la publication:Thyroid, 11, 10, page (977-980)
Statut de publication:Publié, 2001-10
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Congenital Hypothyroidism
Consanguinity
Female
Genes, Recessive
Homozygote
Humans
Hypothyroidism -- genetics
Infant, Newborn
Male
Mutation
Pedigree
Receptors, Thyrotropin -- genetics
Thyroid Gland -- abnormalities
Thyroid Gland -- ultrasonography
Note générale:Case Reports
Journal Article
Langue:Anglais
Identificateurs:urn:issn:1050-7256
info:doi/10.1089/105072501753211064
info:scp/0034751909
info:pmid/11716047