Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in <i>TSHB</i>: A Case Report-Reference-Cited by-同舟云学术

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Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB: A Case Report

Published:2022-04-01 Issue:4 Volume:32 Page:472-474
ISSN:1050-7256
Container-title:Thyroid
language:en
Short-container-title:Thyroid

Author:

Lauffer Peter¹,Bikker Hennie²,Boelen Anita³,Jöbsis Jasper J.⁴,van Trotsenburg A. S. Paul¹,Zwaveling-Soonawala Nitash¹

Affiliation:

1. Department of Pediatric Endocrinology, Emma Children's Hospital; University of Amsterdam, Amsterdam, The Netherlands.

2. Department of Clinical Genetics; University of Amsterdam, Amsterdam, The Netherlands.

3. Endocrine Laboratory; Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

4. Department of Pediatrics, OLVG Hospital, Amsterdam, The Netherlands.

Publisher

Mary Ann Liebert Inc

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.liebertpub.com/doi/pdf/10.1089/thy.2021.0651

Reference4 articles.

1. Diagnosis and Management of Central Congenital Hypothyroidism

2. Age-Specific Reference Intervals for Plasma Free Thyroxine and Thyrotropin in Term Neonates During the First Two Weeks of Life

3. Hyperplastic Pituitary Gland, High Serum Glycoprotein Hormone -Subunit, and Variable Circulating Thyrotropin (TSH) Levels as Hallmark of Central Hypothyroidism due to Mutations of the TSH Gene

4. Structure—function studies of oligosaccharides of recombinant human thyrotrophin by sequential deglycosylation and resialylation

Cited by 2 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. Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4;International Journal of General Medicine;2023-08

2. Effect of levothyroxine sodium on preterm infants with hypothyroidism;TROP J PHARM RES;2023

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