A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING

• Main Authors: Maria de Fátima Borges (Author), Horacio Mario Domené (Author), Paula Alejandra Scaglia (Author), Beatriz Hallal Jorge Lara (Author), Heloísa Marcelina da Cunha Palhares (Author), Andréia Vasconcelos Aguiar Santos (Author), Amanda Lacerda Ferreira Gonçalves (Author), Marília Matos Oliveira (Author), Alessandra Bernadete Trovó de Marqui (Author)
• 格式: 圖書
• 出版: Sociedade de Pediatria de São Paulo.
• 主題: article
• 在線閱讀: Connect to this object online.

ABSTRACT Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family. Case description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isola...