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MON-264 Familial Neonatal Nonautoimmune Hyperthyroidism Due To A Thyrotropin Receptor Gene Mutation (A619G).
Activating germline mutations of the TSH receptor are responsible for a rare form of non-autoimmune hyperthyroidism transmitted as an autosomal dominant trait. We describe the case of a patient and her mother presenting with neonatal non-autoimmune hyperthyroidism associated with a heterozygous A619...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Endocrine Society
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551036/ http://dx.doi.org/10.1210/js.2019-MON-264 |