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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Asıl Yazarlar: Abramowicz, M J, Duprez, L, Parma, J, Vassart, G, Heinrichs, C
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1997
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC508154/
https://ncbi.nlm.nih.gov/pubmed/9185526
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