Associated Papers
A Novel X-Linked Variant c.1772delG (p.G591fs*20) in IRS4 in Two Related Patients with Central Hypothyroidism.
Köprülü Ö et al.
Molecular Syndromology, 2025
Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4.
Lauffer P et al.
Thyroid : Official Journal of the American Thyroid Association, 2023
Diagnosis and Management of Central Congenital Hypothyroidism.
Lauffer P et al.
Frontiers in Endocrinology, 2021
34566885 (PubMed )
Supplement: Table_1.docx
Mutations in IRS4 are associated with central hypothyroidism.
Heinen CA et al.
Journal of Medical Genetics, 2018
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