Article
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
Journal of medical genetics - 1 May 2015
Tylki-Szymańska Anna, Acuna-Hidalgo Rocio, Krajewska-Walasek Małgorzata, Lecka-Ambroziak Agnieszka, Steehouwer Marloes, Gilissen Christian, Brunner Han G, Jurecka Agnieszka, Różdżyńska-Świątkowska Agnieszka, Hoischen Alexander, Chrzanowska Krystyna H
Abstract excerpt
BACKGROUND: Resistance to thyroid hormone is characterised by a lack of response of peripheral tissues to the active form of thyroid hormone (triiodothyronine, T3). In about 85% of cases, a mutation in THRB, the gene coding for thyroid receptor β (TRβ), is the cause of this disorder. Recently, individual reports described the first patients with thyroid hormone receptor α gene (THRA) defects. METHODS: We used...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.