Chargement en cours...

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

Thyroid gland agenesis is the most common cause of congenital hypothyroidism and is usually sporadic. We investigated a brother and sister from consanguineous parents, ascertained through systematic newborn screening, and initially diagnosed with thyroid agenesis. Careful cervical ultrasonography in...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Abramowicz, M J, Duprez, L, Parma, J, Vassart, G, Heinrichs, C
Format: Artigo
Langue:Inglês
Publié: 1997
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC508154/
https://ncbi.nlm.nih.gov/pubmed/9185526
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!