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...

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Main Authors: Abramowicz, M J, Duprez, L, Parma, J, Vassart, G, Heinrichs, C
Format: Artigo
Jezik:Inglês
Izdano: 1997
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC508154/
https://ncbi.nlm.nih.gov/pubmed/9185526
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