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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...

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Detalles Bibliográficos
Autores principales: Patyra, Konrad, Makkonen, Kristiina, Haanpää, Maria, Karppinen, Sinikka, Viikari, Liisa, Toppari, Jorma, Reeve, Mary Pat, Kero, Jukka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
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