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Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.
Ma, Na; Zhu, Zhenhua; Liu, Jing; Peng, Ying; Zhao, Xiaomeng; Tang, Weiling; Jia, Zhengjun; Xi, Hui; Gao, Bodi; Wang, Hua; Du, Juan.
Affiliation
  • Ma N; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, PR China.
  • Zhu Z; Department of General Surgery, Changsha Central Hospital, Changsha, PR China.
  • Liu J; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, PR China.
  • Peng Y; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, PR China.
  • Zhao X; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, PR China.
  • Tang W; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, PR China.
  • Jia Z; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, PR China.
  • Xi H; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, PR China.
  • Gao B; Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, PR China.
  • Wang H; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, PR China.
  • Du J; National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Changsha, PR China.
Mol Genet Genomic Med ; 9(5): e1632, 2021 05.
Article in En | MEDLINE | ID: mdl-33834621
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Collagen Type V / Ehlers-Danlos Syndrome Type of study: Prognostic_studies Limits: Child / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2021 Type: Article
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Collagen Type V / Ehlers-Danlos Syndrome Type of study: Prognostic_studies Limits: Child / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2021 Type: Article