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A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report

BACKGROUND: Congenital hypothyroidism (CH) has an incidence of approximately 1:3000, but only 15% have mutations in the thyroid hormone synthesis pathways. Genetic analysis allows for the precise diagnosis. CASE PRESENTATION: A 3-week old girl presented with a large goiter, serum TSH > 100 mIU/L...

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Detalles Bibliográficos
Autores principales:	Watanabe, Y., Sharwood, E., Goodwin, B., Creech, M. K., Hassan, H. Y., Netea, M. G., Jaeger, M., Dumitrescu, A., Refetoff, S., Huynh, T., Weiss, R. E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932782/ https://www.ncbi.nlm.nih.gov/pubmed/29720101 http://dx.doi.org/10.1186/s12881-018-0588-7

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