Article
A Chinese patient with Rothmund-Thomson syndrome.
Molecular genetics & genomic medicine - 1 Jan 2024
Zeng Juan, Li Jiayi, Liu Yuwei, Liang Rui, Wang Lin, Zhou Qing, Sun Jinghua, Liu Zhongzhen, Wang Wen-Jing, Zhu Sujun
Abstract excerpt
INTRODUCTION: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that has been reported in all ethnicities, with several identifiable pathogenic variants. There have been reported cases indicating that RTS may lead to low birth weight in fetuses, but specific data on the fetal period are lacking. Genetic testing for RTS II is currently carried out by identifying pathogenic variants in RECQL4....
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