DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland

Abstract 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...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2017-11, Vol.102 (11), p.4060-4071
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Cell surface Children Cohort Studies Congenital diseases Congenital Hypothyroidism - complications Congenital Hypothyroidism - genetics DNA Mutational Analysis Dual Oxidases - chemistry Dual Oxidases - genetics Endocrinology and metabolism Enzymatic activity Etiology Female Functional analysis Genes Genetic Association Studies Genetic Predisposition to Disease Genotyping HEK293 Cells Human health and pathology Humans Hypothyroidism Infant, Newborn Life Sciences Male Mutants Mutation Neonates Protein Domains - genetics Reactive oxygen species Thyroid Thyroid Dysgenesis - complications Thyroid Dysgenesis - genetics Thyroid gland Thyroid Gland - embryology Thyroid-stimulating hormone
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