Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Novel TSHB variant (c.217A>C) causing severe central hypothyroidism and pituitary hyperplasia.
Kaplan AI et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
34200080 (PubMed )
Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S8
Diagnosis and Management of Central Congenital Hypothyroidism.
Lauffer P et al.
Frontiers in Endocrinology, 2021
34566885 (PubMed )
Supplement: Table_1.docx
Recent advances in research on isolated congenital central hypothyroidism.
Tajima T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2019
Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.
Özhan B et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.
Nicholas AK et al.
Clinical Endocrinology, 2017
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