Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism
Arch. endocrinol. metab. (Online); 60 (4), 2016
ABSTRACT Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by ...
China/epidemiología, Estudios de Cohortes, Pruebas Genéticas/métodos, Bocio Nodular/epidemiología, Bocio Nodular/genética, Pérdida Auditiva Sensorineural/epidemiología, Pérdida Auditiva Sensorineural/genética, Proteínas de Transporte de Membrana/genética, Mutación, Tamizaje Neonatal/métodos, Prevalencia, Transportadores de Sulfato, Tirotropina/sangre, Tiroxina/sangre, Acueducto Vestibular/anomalías