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

• Asıl Yazarlar: Elisabetta Sciarroni (Yazar), Lucia Montanelli (Yazar), Caterina Di Cosmo (Yazar), Brunella Bagattini (Yazar), Simone Comi (Yazar), Luisa Pignata (Yazar), Alessandro Brancatella (Yazar), Giuseppina De Marco (Yazar), Eleonora Ferrarini (Yazar), Chiara Nencetti (Yazar), Maria Rita Sessa (Yazar), Francesco Latrofa (Yazar), Ferruccio Santini (Yazar), Massimo Tonacchera (Yazar), Patrizia Agretti (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2024-05-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...