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| Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene | |
| Seung Heo, Ja-Hyun Jang, Jeesuk Yu | |
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Ann Pediatr Endocrinol Metab. 2019;24(3):199-202. Published online September 30, 2019 DOI: https://doi.org/10.6065/apem.2019.24.3.199 |
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Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene Annals of Pediatric Endocrinology & Metabolism. 2019;24(3):199-202  MON-265 Congenital Hypothyroidism and Bilateral Ptosis Due to a Novel TSHR Gene Mutation Journal of the Endocrine Society. 2019;3(Supplement_1): A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report BMC Medical Genetics. 2018;19(1): Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene European Journal of Pediatrics. 2013;172(7):959-964 A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels Journal of Human Genetics. 2006;51(4):379-382 Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism Endocrine. 2013;45(2):206-212 Congenital Central Hypothyroidism due to a Homozygous Mutation in theTSHβSubunit Gene Case Reports in Pediatrics. 2011;2011:1-4 Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism Clinical Endocrinology. 2010;73(6):808-814 Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7 Clinical Endocrinology. 2010;72(1):112-121 Congenital Goiter with Hypothyroidism Caused by a 5′ Splice Site Mutation in the Thyroglobulin Gene Thyroid. 2001;11(7):685-690 |
