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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Veröffentlicht in:Rev Paul Pediatr
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Sociedade de Pediatria de São Paulo 2019
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6821475/
https://ncbi.nlm.nih.gov/pubmed/31166470
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1984-0462/;2019;37;4;00017
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