Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center

ConclusionIn the present series, most cases were RTH β with higher levels of TSH. We described three novel mutations inTHRB (p.M313V, p.R320G and p.R438P) and the first patients with FDH molecular diagnosis (p.R242H) documented in Brazil.

http://link.springer.com/10.1007/s12020-018-1673-6

Source: Endocrine - November 17, 2018 Category: Endocrinology Source Type: research