{"title":"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","authors":"Wu Hr, Allybocusa Za, Ma Xy, Shibata Hr","doi":"10.4172/2161-0932.1000483","DOIUrl":null,"url":null,"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","PeriodicalId":22164,"journal":{"name":"Surgery, gynecology & obstetrics","volume":"29 4","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"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\",\"authors\":\"Wu Hr, Allybocusa Za, Ma Xy, Shibata Hr\",\"doi\":\"10.4172/2161-0932.1000483\",\"DOIUrl\":null,\"url\":null,\"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\",\"PeriodicalId\":22164,\"journal\":{\"name\":\"Surgery, gynecology & obstetrics\",\"volume\":\"29 4\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Surgery, gynecology & obstetrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4172/2161-0932.1000483\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Surgery, gynecology & obstetrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4172/2161-0932.1000483","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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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