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

• Main Authors: Eve Stern (Author), Nadia Schoenmakers (Author), Adeline K. Nicholas (Author), Eran Kassif (Author), Orit Pinhas Hamiel (Author), Yonatan Yeshayahu (Author)
• Format: Book
• Published: Galenos Yayincilik, 2022-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...