Growth and Neurodevelopmental Outcomes of Children With Congenital Hypothyroidism Identified Through Dried Blood Spot Newborn Screening at a Tertiary Care Hospital in Pakistan. [PDF]
Rehman B +11 more
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Patterns of thyroid dysfunction in children with trisomy 21: an observational study. [PDF]
Weerasinghe A +3 more
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Thyroid dyshormonogenesis caused by iodotyrosine deiodinase pathogenic variant: three cases presenting in adolescence. [PDF]
Choong IEX, Chen SC, Shaikh MG.
europepmc +1 more source
Improvements in screening test, diagnosis, and outcomes of children with congenital hypothyroidism: lessons learned from 50 years of newborn screening. [PDF]
Salerno M +9 more
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<i>DUOXA2</i> Variants as an Underrecognized Cause of Diffuse Goiter: A Euthyroid Adult Case Responsive to Levothyroxine. [PDF]
Deguchi-Horiuchi H +4 more
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Genetic screening and functional characterization of <i>DUOX2</i> mutations in patients with congenital hypothyroidism. [PDF]
Huang SH +12 more
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Early prediction of transient versus permanent congenital hypothyroidism: a retrospective cohort study. [PDF]
Yoo MJ +5 more
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Approach to the patient: genetics and management of congenital hypothyroidism.
Nguyen Quoc A +4 more
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Value of thyroid volume as a complementary indicator for initial levothyroxine dosing in congenital hypothyroidism: a retrospective cohort study. [PDF]
Zhang Y, Liu Q, Luo H, Lin B, Liao L.
europepmc +1 more source
Genotype-phenotype correlation of biallelic DUOX2 mutations in transient and permanent congenital hypothyroidism. [PDF]
Liang SB +6 more
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