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Article

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

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.

Y. Watanabe, E. Sharwood, B. Goodwin, M. K. Creech, H. Y. Hassan… in BMC Medical Genetics (2018)