Article
DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.
The Journal of clinical endocrinology and metabolism - 1 Nov 2017
Kizys Marina M L, Louzada Ruy A, Mitne-Neto Miguel, Jara Jessica R, Furuzawa Gilberto K, de Carvalho Denise P, Dias-da-Silva Magnus R, Nesi-França Suzana, Dupuy Corinne, Maciel Rui M B
Abstract excerpt
Context: Thyroid dysgenesis (TD) is the leading cause of congenital hypothyroidism (CH). The etiology of TD remains unknown in ∼90% of cases, the most common form being thyroid ectopia (TE) (48% to 61%). Objective: To search for candidate genes in hypothyroid children with TE. Design, Setting, and Participants: We followed a cohort of 268 children with TD and performed whole-exome sequencing (WES) in three...
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