Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

• Hao Deng ,

  * E-mail: hdeng008@yahoo.com (HD); song6055@163.com (ZS)

  Affiliations Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, 410013, China, Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, 410013, China

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• Qian Lu,

  Affiliation Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, 410013, China

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• Hongbo Xu,

  Affiliation Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, 410013, China

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• Xiong Deng,

  Affiliation Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, 410013, China

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• Lamei Yuan,

  Affiliation Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, 410013, China

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• Zhijian Yang,

  Affiliation Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, 410013, China

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• Yi Guo,

  Affiliations Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, 410013, China, Department of Medical Information, Information Security and Big Data Research Institute, Central South University, Changsha, 410013, China

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• Qiongfen Lin,

  Affiliation BGI-Shenzhen, Shenzhen, 518083, China

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• Jingjing Xiao,

  Affiliation BGI-Shenzhen, Shenzhen, 518083, China

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• Liping Guan,

  Affiliation BGI-Shenzhen, Shenzhen, 518083, China

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• Zhi Song

  * E-mail: hdeng008@yahoo.com (HD); song6055@163.com (ZS)

  Affiliation Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, 410013, China

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