<i>TSHR</i> Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism-Reference-Cited by-同舟云学术

TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism

Published:2024-03-04 Issue:4 Volume:44 Page:343-353
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Zhang Hai-Yang¹^ORCID,Wu Feng-Yao¹^ORCID,Li Xue-Song²^ORCID,Tu Ping-Hui¹^ORCID,Zhang Cao-Xu¹^ORCID,Yang Rui-Meng¹^ORCID,Cui Ren-Jie¹^ORCID,Wu Chen-Yang¹^ORCID,Fang Ya¹^ORCID,Yang Liu¹^ORCID,Song Huai-Dong¹^ORCID,Zhao Shuang-Xia¹^ORCID

Affiliation:

1. The Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, Shanghai Ninth People’s Hospital, State Key Laboratory of Medical Genomics, Shanghai Jiao Tong University School of Medicine, Shanghai, China

2. Department of Endocrine Metabolism, Minhang Hospital, Fudan University, Shanghai, China

Funder

National Natural Science Foundation of China

Shanghai Municipal Education Commission

Natural Science Foundation of Minhang District

Publisher

Annals of Laboratory Medicine

Link

https://pdf.medrang.co.kr/ALM/2024/044/ALM044-04-343.pdf

Reference30 articles.

1. Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

2. Genetics of primary congenital hypothyroidism—a review

3. New genetics in congenital hypothyroidism

4. A New Phenotype of Nongoitrous and Nonautoimmune Hyperthyroidism Caused by a Heterozygous Thyrotropin Receptor Mutation in Transmembrane Helix 6

5. Nonclassic TSH Resistance:TSHRMutation Carriers with Discrepantly High Thyroidal Iodine Uptake