Publications

Heinen CA et al. Mutations in IRS4 are associated with central hypothyroidism. J Med Genet. 2018;55(10):693–700. PMID: 30061370.

Lauffer P et al. Diagnosis and Management of Central Congenital Hypothyroidism.Front Endocrinol (Lausanne). 2021;12:686317. PMID: 34566885.

Patyra K et al. Screening for mutations in isolated central hypothyroidism reveals a novel mutation in insulin receptor substrate 4.Front Endocrinol (Lausanne). 2021;12:658137. PMID: 34093435.

Lauffer P et al. Further delineation of central congenital hypothyroidism due to variants in TBL1X and IRS4. Thyroid. 2023;33(7):880–884. PMID: 36860195.

Brûlé E et al. The hypothalamic–pituitary–thyroid axis is intact in male Irs4 knockout mice.Eur Thyroid J. 2024;13:e230054. PMID: 38271814.

Köprülü Ö. A novel X-linked variant c.1772delG (p.G591fs*20) in IRS4 in two related patients with central hypothyroidism.Mol Syndromol. 2025;16(6):593–600. PMID: 41048878.