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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Dettagli Bibliografici
Pubblicato in:Rev Paul Pediatr
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Sociedade de Pediatria de São Paulo 2019
Soggetti:
Case Report
Accesso online: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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