Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Endocrinology"
DOI: 10.1155/2018/8986475
Abstract: Objective Thyroid dyshormonogenesis (DH) is a genetically heterogeneous inherited disorder caused by thyroid hormone synthesis abnormalities. This study aims at comprehensively characterizing the mutation spectrum in Chinese patients with DH. Subjects and Methods We utilized… read more here.
Keywords: duox2 duoxa2; thyroid dyshormonogenesis; patients carried; mutational spectrum ... See more keywords
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism
Sign Up to like & getrecommendations! Published in 2017 at "Yonsei Medical Journal"
DOI: 10.3349/ymj.2017.58.4.888
Abstract: The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence… read more here.
Keywords: duox2 duoxa2; duoxa2 genes; congenital hypothyroidism; genes cause ... See more keywords