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 i...

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Detalles Bibliográficos
Autores principales: Borges, Maria de Fátima, Domené, Horacio Mario, Scaglia, Paula Alejandra, Lara, Beatriz Hallal Jorge, Palhares, Heloísa Marcelina da Cunha, Santos, Andréia Vasconcelos Aguiar, Gonçalves, Amanda Lacerda Ferreira, Oliveira, Marília Matos, de Marqui, Alessandra Bernadete Trovó
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade de Pediatria de São Paulo 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821475/
https://www.ncbi.nlm.nih.gov/pubmed/31166470
http://dx.doi.org/10.1590/1984-0462/;2019;37;4;00017

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821475/
https://www.ncbi.nlm.nih.gov/pubmed/31166470
http://dx.doi.org/10.1590/1984-0462/;2019;37;4;00017

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