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

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 isolated CCH...

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Publicado en:Revista Paulista de Pediatria
Main Authors: Maria de Fátima Borges, Horacio Mario Domené, Paula Alejandra Scaglia, Beatriz Hallal Jorge Lara, Heloísa Marcelina da Cunha Palhares, Andréia Vasconcelos Aguiar Santos, Amanda Lacerda Ferreira Gonçalves, Marília Matos Oliveira, Alessandra Bernadete Trovó de Marqui
Formato: Artigo
Idioma:Inglês
Publicado: Sociedade de Pediatria de São Paulo 2019
Assuntos:
Medicina
Mutation
Thyrotropin
beta subunit
Neonatal screening
Congenital hypothyroidism
Acceso en liña:https://www.redalyc.org/articulo.oa?id=406062307019
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