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MON-265 Congenital Hypothyroidism and Bilateral Ptosis Due to a Novel TSHR Gene Mutation
Background. Congenital hypothyroidism (CH) is most frequently caused by thyroid dysgenesis. Approximately 2% of cases with thyroid dysgenesis are familial. TSH receptor (TSHR) gene mutations have been reported in patients with thyroid gland dysgenesis; however, they are not known to be associated wi...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Endocrine Society
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551143/ http://dx.doi.org/10.1210/js.2019-MON-265 |