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MON-270 Diagnostic Exome Sequencing in Children with Permanent Congenital Hypothyroidism
Introduction: Congenital hypothyroidism can be caused by aplasia or hypoplasia of the thyroid gland, ectopic thyroid, or dyshormonogenesis. Thyroid function test, thyroid ultrasonography, and thyroid scintigraphy may be helpful in diagnosis. Molecular genetic approach can be used to identify the gen...
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| Publicado en: | J Endocr Soc |
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| Autores principales: | , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Endocrine Society
2019
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6551082/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-MON-270 |
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