Associated Papers
Defects in protein folding in congenital hypothyroidism.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2020
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.
Aycan Z et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Disorders of H2O2 generation.
Muzza M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis.
Belforte FS et al.
Molecular and Cellular Endocrinology, 2016
Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism.
Hoste C et al.
Human Mutation, 2010
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