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A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism

CONTEXT: Isolated central congenital hypothyroidism (CCH) is rare and evades diagnosis on TSH-based congenital hypothyroidism (CH) screening programs in the United Kingdom. Accordingly, genetic ascertainment facilitates diagnosis and treatment of familial cases. Recognized causes include TSH β subun...

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Detalles Bibliográficos
Autores principales:	Koulouri, O., Nicholas, A. K., Schoenmakers, E., Mokrosinski, J., Lane, F., Cole, T., Kirk, J., Farooqi, I. S., Chatterjee, V. K., Gurnell, M., Schoenmakers, N.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2016
Materias:	Special Features
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803180/ https://www.ncbi.nlm.nih.gov/pubmed/26735259 http://dx.doi.org/10.1210/jc.2015-3916

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