Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis
Arch. endocrinol. metab. (Online); 62 (4), 2018
ABSTRACT Objective: To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. Subjects and methods: Characterization of patients with congenital hypothyroidism into specific subtypes of thyroid dysgenesis with hormone levels (TT4 and TSH), thyroid ultra...
Brasil, Estudios de Cohortes, Hipotiroidismo Congénito/diagnóstico por imagen, Hipotiroidismo Congénito/etiología, Hipotiroidismo Congénito/genética, Análisis Mutacional de ADN, Pruebas Genéticas, Proteína Homeótica Nkx-2.5/genética, Mutación/genética, Factor de Transcripción PAX8/genética, Receptores de Tirotropina/genética, Disgenesias Tiroideas/genética, Ultrasonografía