Severe Congenital Hypothyroidism Due to a Homozygous Mutation of the βTSH Gene-Reference-Cited by-同舟云学术

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Severe Congenital Hypothyroidism Due to a Homozygous Mutation of the βTSH Gene

Published:1999-08 Issue:2 Volume:46 Page:170-173
ISSN:0031-3998
Container-title:Pediatric Research
language:
Short-container-title:Pediatr Res

Author:

Biebermann Heike,Liesenkötter Klaus-Peter,Emeis Michael,Obladen Michael,Grüters Annette

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference13 articles.

1. Detection of congenital hypopituitary hypothyroidism: Ten-year experience in The Northwest Regional Screening Program

2. A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.

3. Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit.

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1. Thyroid-Stimulating Hormone;The Pituitary;2022

2. 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

3. A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING;Revista Paulista de Pediatria;2019-12

4. The Pathogenic TSH β-subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR;International Journal of Molecular Sciences;2019-11-07

5. Novel Splicing of Immune System Thyroid Stimulating Hormone β-Subunit—Genetic Regulation and Biological Importance;Frontiers in Endocrinology;2019-02-05

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