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

Surgery, gynecology & obstetrics Pub Date : 2018-01-01 DOI:10.4172/2161-0932.1000483

Wu Hr, Allybocusa Za, Ma Xy, Shibata Hr

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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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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

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

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Surgery, gynecology & obstetrics

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