Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings-Reference-Cited by-同舟云学术

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Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings

Published:2017-09-01 Issue:3 Volume:9 Page:278-282
ISSN:1308-5727
Container-title:Journal of Clinical Research in Pediatric Endocrinology
language:
Short-container-title:Jcrpe

Author:

Özhan Bayram,Boz Anlaş Özlem,Sarıkepe Bilge,Albuz Burcu,Semerci Gündüz Nur

Publisher

Galenos Yayinevi

Subject

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

Cited by 7 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. Position statement on the diagnosis and management of congenital pituitary deficiency in adults: The French National Diagnosis and Treatment Protocol (NDTP);Annales d'Endocrinologie;2024-07

2. The clinical picture of the damage to the organs of the hepatobiliopancreatic area in hypothyroidism;Journal of Advanced Pharmacy Education and Research;2023

3. Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7;Journal of Endocrinological Investigation;2021-11-15

4. Identification of Novel Missense Mutations of the TSH-β Subunit Gene in Pediatric Patients with Congenital Central Hypothyroidism;Jentashapir Journal of Cellular and Molecular Biology;2020-11-01

5. Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ;Hormone Research in Paediatrics;2019

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