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12

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摘要

A novel rare missense mutation in the TG gene was identified. The ChEL domain is critical for protein folding and patients with CH due to misfolded TG may present without low serum TG despite the TG gene mutations.

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关键词

Congenital hypothyroidism, Goiter, Novel mutations, Thyroglobulin, TG

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