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一名中国患者患有罗斯蒙德-姆森综合征

Juan Zeng1, Jiayi Li2,3, Yuwei Liu2,3

  • 1Obstetrics Department, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong Province, China.

Molecular genetics & genomic medicine
|December 22, 2023
PubMed
概括

罗斯蒙德-姆森综合征 (RTS) 是一种罕见的遗传疾病. 这项研究在中国患者中发现了新的RECQL4基因突变,扩大了已知的遗传变异,并为RTS的临床诊断和计划生育提供了信息.

关键词:
第四十四章 记忆罗斯蒙德 - 姆森综合征致病性化合物 异性突变 异性突变在产前诊断 产前诊断

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