A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene

• 主要な著者: Doğa Türkkahraman (著者), Nimet Karataş Torun (著者), Nadide Cemre Randa (著者)
• フォーマット: 図書
• 出版事項: Galenos Yayincilik, 2021-09-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Loss-of-function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause X-linked central hypothyroidism, and therefore its mutation affects mainly males. Central hypothyroidism in males is the hallmark of the disorder, however some patients additionally present with hypoprolactinem...