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
Mots-clés MeSH : 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 : 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:pmid/11232006