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...

وصف كامل

التفاصيل البيبلوغرافية

الحاوية / القاعدة:	Revista Paulista de Pediatria
المؤلفون الرئيسيون:	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
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	Sociedade de Pediatria de São Paulo 2019
الموضوعات:	Medicina
الوصول للمادة أونلاين:	https://www.redalyc.org/articulo.oa?id=406062307019 https://www.redalyc.org/journal/4060/406062307019/ https://www.redalyc.org/journal/4060/406062307019/html/ https://www.redalyc.org/journal/4060/406062307019/406062307019.epub https://www.redalyc.org/journal/4060/406062307019/movil
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