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Genetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study. [PDF]
Ahn J, Jeong H.
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The role of ultrasonography in primary congenital hypothyroidism.
Mahin Hashemipour +9 more
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Congenital Hypothyroidism: Screening and Management.
Pediatrics, 2022Untreated congenital hypothyroidism (CH) leads to intellectual disabilities. Prompt diagnosis by newborn screening (NBS) leading to early and adequate treatment results in grossly normal neurocognitive outcomes in adulthood.
S. Rose +8 more
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Update on congenital hypothyroidism.
Current Opinion in Endocrinology, Diabetes & Obesity, 2019PURPOSE OF REVIEW The present review summarizes recent advances in the diagnosis and management of patients with congenital hypothyroidism. RECENT FINDINGS Although most newborn screening strategies are designed to detect severe primary hypothyroidism ...
Christine E. Cherella, Ari J. Wassner
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Genetics of primary congenital hypothyroidism—a review
HORMONES, 2021E. Kostopoulou +2 more
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New genetics in congenital hypothyroidism
Endocrine, 2021A. Stoupa +7 more
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