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Патогенные варианты гена <i>TSHR</i> у детей с дисгенезией щитовидной железы
BACKGROUND: BACKGROUND: Loss-of-function mutations in the TSH receptor gene (TSHR) (NP_000360.2) are the potential causes of thyroid dysgenesis in patients with congenital hypothyroidism. Heterozygous variants of the TSHR gene lead to partial resistance to TSH, homozygous and compound heterozygous v...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Endocrinology Research Centre
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9978874/ https://www.ncbi.nlm.nih.gov/pubmed/36842079 http://dx.doi.org/10.14341/probl13210 |