TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review

• Asıl Yazarlar: Leman Kayaş (Yazar), Emine Çamtosun (Yazar), Ayşehan Akıncı (Yazar), Rıfat Bircan (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Galenos Yayincilik, 2022-03-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

An activating variant of the thyroid stimulating hormone receptor (TSHR) gene is one of the rare causes of neonatal hyperthyroidism. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. Here we present a case of neonatal onset congenital...