Journal of Clinical Pediatrics ›› 2019, Vol. 37 ›› Issue (11): 843-.doi: 10.3969/j.issn.1000-3606.2019.11.011

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Analysis of clinical manifestations and genetic mutations in a family with congenital contractural arachnodactyly

 LUO Yanfei1, LI Juan2, MIREGULI Maimaiti1, WANG Xiuming2, WANG Jian2   

  1. Department of Neurology, Children’s Hospital of Chongqing Medical University; Ministry of Education Key Laboratory of Child Development and Disorders; China international Science and Technology Cooperation Base of Development and Critical Disorders; Chongqing Key Laboratory of Pediatrics, Chongqing, 400014, China
  • Online:2019-11-15 Published:2020-02-03

Abstract: Department of Neurology, Children’s Hospital of Chongqing Medical University; Ministry of Education Key Laboratory of Child Development and Disorders; China international Science and Technology Cooperation Base of Development and Critical Disorders; Chongqing Key Laboratory of Pediatrics, Chongqing, 400014, China

Key words: Xia-Gibbs syndrome; AHDC1 mutation; whole exon sequencing; child