Igsf1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.

Rachel Fourneaux,Rachel Reynaud,Gregory Mougel,Sarah Castets,Patricia Bretones,Benjamin Dauriat,Thomas Edouard,Gerald Raverot,Anne Barlier,Thierry Brue,Frederic Castinetti,Alexandru Saveanu

European journal of endocrinology（2022）

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摘要

Our results show that IGSF1 variants represent the most frequent aetiology of TSH deficiency. Despite a systematic NGS approach and the identification of new variants, most patients remain without a molecular diagnosis. Larger scale studies, such as exome or genome studies, should be considered in the future.

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关键词

thyrotropin,frequent genetic aetiology,mutations

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