Titre:
  • Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.
Auteur:Vilain, Catheline; Rydlewski, C.; Duprez, Laurence; Heinrichs, Claudine; Abramowicz, Marc; Malvaux, P; Renneboog, Benoît; Parma, Jasmine; Costagliola, Sabine; Vassart, Gilbert
Informations sur la publication:The Journal of clinical endocrinology and metabolism, 86, 1, page (234-238)
Statut de publication:Publié, 2001-01
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adult
Amino Acid Sequence -- genetics
Base Sequence -- genetics
Congenital Hypothyroidism
DNA-Binding Proteins -- genetics
DNA-Binding Proteins -- physiology
Female
Genes, Dominant
Humans
Hypothyroidism -- genetics
Infant
Molecular Sequence Data
Mutation -- physiology
Nuclear Proteins
Paired Box Transcription Factors
Thyroid Diseases -- complications
Thyroid Diseases -- congenital
Thyroid Diseases -- genetics
Thyroid Diseases -- physiopathology
Thyroid Gland -- abnormalities
Trans-Activators -- genetics
Trans-Activators -- physiology
Note générale:Case Reports
Journal Article
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0021-972X
info:doi/10.1210/jc.86.1.234
info:scp/17744381340
info:pmid/11232006