Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report

• Автори: Elisabetta Sciarroni (Автор), Lucia Montanelli (Автор), Caterina Di Cosmo (Автор), Brunella Bagattini (Автор), Simone Comi (Автор), Luisa Pignata (Автор), Alessandro Brancatella (Автор), Giuseppina De Marco (Автор), Eleonora Ferrarini (Автор), Chiara Nencetti (Автор), Maria Rita Sessa (Автор), Francesco Latrofa (Автор), Ferruccio Santini (Автор), Massimo Tonacchera (Автор), Patrizia Agretti (Автор)
• Формат: Книга
• Опубліковано: BMC, 2024-05-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

Abstract Background In this study, we used targeted next-generation sequencing (NGS) to investigate the genetic basis of congenital hypothyroidism (CH) in a 19-year-old Tunisian man who presented with severe hypothyroidism and goiter. Case presentation The propositus reported the appearance of goite...