Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland

OBJECTIVE: Homozygous mutations in the TSH beta subunit gene (TSHB) result in severe, isolated, central congenital hypothyroidism (CCH). This entity evades diagnosis in TSH‐based congenital hypothyroidism (CH) screening programmes in the UK and Ireland. Accordingly, genetic diagnosis, enabling ascer...

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Detalles Bibliográficos
Autores principales: Nicholas, A.K., Jaleel, S., Lyons, G., Schoenmakers, E., Dattani, M.T., Crowne, E., Bernhard, B., Kirk, J., Roche, E.F., Chatterjee, V.K., Schoenmakers, N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324561/
https://www.ncbi.nlm.nih.gov/pubmed/27362444
http://dx.doi.org/10.1111/cen.13149

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324561/
https://www.ncbi.nlm.nih.gov/pubmed/27362444
http://dx.doi.org/10.1111/cen.13149

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