Familial Non-autoimmune Hyperthyroidism Caused by an Extracellular Domain Variant (p.Leu267Phe) of the TSH Receptor.
Leu267Phe-TSHR causes NAH. Substituting Leu267 to aromatic amino acids may shift the equilibrium of the TSHR state toward activation.
Authors
- Tomohiro Ishii (ORCID: https://orcid.org/0000-0001-7360-2465)
- Satoshi Narumi (ORCID: https://orcid.org/0000-0002-0940-4517)
- Kazuhiro Shimura (ORCID: https://orcid.org/0000-0002-9797-5925)
- Tomonobu Hasegawa (ORCID: https://orcid.org/0000-0002-0143-3989)
- Yosuke Ichihashi
- Kiyomi Abe (ORCID: https://orcid.org/0000-0002-8038-5144)
Institutions
- Keio University (JP)
- Saiseikai Central Hospital (JP)
Publication Details
- Journal
- Hormone Research in Paediatrics
- Published
- 2025-02-21
- DOI
- https://doi.org/10.1159/000544836
- Primary Topic
- Thyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00