Associated Papers
Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.
Naqvi SF et al.
The Yale Journal of Biology and Medicine, 2023
Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C et al.
Thyroid : Official Journal of the American Thyroid Association, 2023
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Molina MF et al.
Endocrine, 2022
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
Fu C et al.
Bmj Open, 2016
Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism.
Ma SG et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
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