Associated Papers
The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.
Du J et al.
Annals of Medicine, 2025
Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene.
Jung SY et al.
Annals of Pediatric Endocrinology & Metabolism, 2020
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
Long W et al.
International Journal of Endocrinology, 2020
Homozygous DUOXA2 mutation (p.Tyr138*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature.
Sugisawa C et al.
Endocrine Journal, 2017
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.
Zheng X et al.
Yonsei Medical Journal, 2017
A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism.
Zheng X et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression.
Liu S et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H et al.
Current Opinion in Pediatrics, 2011
A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
Hulur I et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism.
Grasberger H
Molecular and Cellular Endocrinology, 2010
Select a paper to view details