A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant

• मुख्य लेखकों: Eve Stern (लेखक), Nadia Schoenmakers (लेखक), Adeline K. Nicholas (लेखक), Eran Kassif (लेखक), Orit Pinhas Hamiel (लेखक), Yonatan Yeshayahu (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Galenos Yayincilik, 2022-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Congenital hypothyroidism (CH) due to dyshormonogenesis may occur due to mutations in any of the key genes involved in thyroid hormone biosynthesis (TG, TPO, DUOX2, DUOXA2, SLC5A5, IYD, SLC26A4 and SLC26A7). Mutations in the thyroglobulin gene (TG) are frequently associated with goiter, which may pr...