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Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4
BACKGROUND: Central hypothyroidism (CeH) is a rare condition affecting approximately 1:16 000- 100 000 individuals. Congenital forms can harm normal development if not detected and treated promptly. Clinical and biochemical diagnosis, especially of isolated CeH, can be challenging. Cases are not usu...
Autores principales: | Patyra, Konrad, Makkonen, Kristiina, Haanpää, Maria, Karppinen, Sinikka, Viikari, Liisa, Toppari, Jorma, Reeve, Mary Pat, Kero, Jukka |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8176851/ https://www.ncbi.nlm.nih.gov/pubmed/34093435 http://dx.doi.org/10.3389/fendo.2021.658137 |
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