FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations

Article Properties
  • Language
    English
  • DOI (url)
    10.1080/03008207.2024.2340004
  • Publication Date
    2024/04/11
  • Journal
    Connective Tissue Research
  • Indian UGC (journal)
  • Refrences
    34
  • Shulin Yang Reproductive Medicine Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China ORCID (unauthenticated)
  • Zongzhe Li Division of Cardiology, Departments of Internal Medicine and Genetic Diagnosis Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
Cite
Yang, Shulin, and Zongzhe Li. “FBN2 Pathogenic Variants in Congenital Contractural Arachnodactyly With Severe Cardiovascular Manifestations”. Connective Tissue Research, 2024, pp. 1-12, https://doi.org/10.1080/03008207.2024.2340004.
Yang, S., & Li, Z. (2024). FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations. Connective Tissue Research, 1-12. https://doi.org/10.1080/03008207.2024.2340004
Yang S, Li Z. FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations. Connective Tissue Research. 2024;:1-12.
Journal Categories
Medicine
Medicine
Surgery
Orthopedic surgery
Science
Biology (General)
Cytology
Science
Biology (General)
Genetics
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Refrences
Title Journal Journal Categories Citations Publication Date
"NEW" SYNDROME OF CONGENITAL CONTRACTURAL ARACHNODACTYLY ORIGINALLY DESCRIBED BY MARFAN IN 1896

 Pediatrics
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  • Medicine: Pediatrics
  • Medicine: Medicine (General)
 62 1972
A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly Frontiers in Genetics
  • Science: Biology (General): Genetics
  • Science: Biology (General): Genetics
  • Science: Biology (General): Genetics
 7 2020
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2 1996
Fibrillin–2 (FBN2) mutations result in the Marfan–like disorder, congenital contractural arachnodactyly Nature Genetics
  • Science: Biology (General): Genetics
  • Science: Biology (General): Genetics
 177 1995
10.1007/BF00426075