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

Y. Watanabe,E. Sharwood, B. Goodwin, M. K. Creech,H. Y. Hassan, M. G. Netea,M. Jaeger,A. Dumitrescu,S. Refetoff,T. Huynh,R. E. Weiss

BMC Medical Genetics（2018）

引用 13|浏览16

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摘要

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.

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关键词

Congenital hypothyroidism,Goiter,Novel mutations,Thyroglobulin,TG

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