A recurrent mutation in tshb gene underlying central congenital hypothyroidism undetectable in neonatal screening
Rev. Paul. Pediatr. (Ed. Port., Online); 37 (4), 2019
ABSTRACT 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 isolat...