Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Author:
Publisher
Korean Society of Pediatric Endocrinology
Subject
Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
http://e-apem.org/upload/pdf/apem-2019-24-3-199.pdf
Reference13 articles.
1. Genetics of congenital hypothyroidism
2. Congenital hypothyroidism
3. Ultrasound of the thyroid gland in the newborn: normative data
4. Comparative ultrasound measurement of normal thyroid gland dimensions in school aged children in our local environment
5. Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
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1. Comparison between transient and permanent congenital hypothyroidism on a thyroid function test after re-evaluation;Annals of Pediatric Endocrinology & Metabolism;2023-12-31
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3. Diagnosis and Management of Congenital Hypothyroidism: An Updated Overview;Journal of Comprehensive Pediatrics;2023-09-01
4. The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism;Molecular and Cellular Endocrinology;2023-07
5. Conservative Treatment of Fetal Goitrous Hypothyroidism Due to Thyroglobulin Mutations: A Case Report and Literature Review;Maternal-Fetal Medicine;2023-05-18
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