First Reported Cases of Robinow-Sorauf Syndrome in a Three-Generation Family in China, a Mutation c.395G>C of TWIST1 Gene as Identified by Next Generation Sequencing

Wu Hr, Allybocusa Za, Ma Xy, Shibata Hr
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Abstract

Wua HR1, Allybocusa ZA1*, Maa XY2 and Shib HR2 1Center of Genetics and Prenatal Diagnosis, China 2Department of Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan province, China *Corresponding author: Allybocusa ZA, Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan province, China, Tel: 0086-66913236; E-mail: qh_wu77@163.com
中国三代家族中首次报道Robinow-Sorauf综合征,通过下一代测序发现TWIST1基因C . 395g >C突变
1中国遗传与产前诊断中心2郑州大学第一附属医院妇科,河南郑州*通讯作者:郑州大学第一附属医院遗传与产前诊断中心,河南郑州,电话:0086-66913236;电子邮件:qh_wu77@163.com
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