A Novel mutation in the Thyroglobulin Gene resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean infant-Reference-Cited by-同舟云学术

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A Novel mutation in the Thyroglobulin Gene resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean infant

Published:2021-04-08 Issue:0 Volume:0 Page:0-0
ISSN:1308-5727
Container-title:Journal of Clinical Research in Pediatric Endocrinology
language:
Short-container-title:Jcrpe

Author:

Stern Eve,Schoenmakers Nadia,Nicholas Adeline K.,Kassif Eran,Hamiel Orit Pinhas,Yeshayahu Yonatan

Publisher

Galenos Yayinevi

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Structural features of thyroglobulin linked to protein trafficking;Protein Science;2023-10-16

2. A Large Thyroid Goiter in a Newborn With Congenital Hypothyroidism: Timeline for Decrease in Size of Thyroid;Ear, Nose & Throat Journal;2023-07-27

3. Conservative Treatment of Fetal Goitrous Hypothyroidism Due to Thyroglobulin Mutations: A Case Report and Literature Review;Maternal-Fetal Medicine;2023-05-18

4. A glance at post-translational modifications of human thyroglobulin: potential impact on function and pathogenesis;European Thyroid Journal;2022-06-01

5. Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms;Molecular and Cellular Endocrinology;2021-08

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