Associated Papers
Novel TSHB variant (c.217A>C) causing severe central hypothyroidism and pituitary hyperplasia.
Kaplan AI et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2022
Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB: A Case Report.
Lauffer P et al.
Thyroid : Official Journal of the American Thyroid Association, 2022
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
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
Peters C et al.
European Journal of Endocrinology, 2018
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
Recent advances in central congenital hypothyroidism.
Schoenmakers N et al.
The Journal of Endocrinology, 2015
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