Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome-Reference-Cited by-同舟云学术

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome

Published:2018-05-28 Issue:2 Volume:60 Page:146-154
ISSN:0300-8207
Container-title:Connective Tissue Research
language:en
Short-container-title:Connective Tissue Research

Author:

Ergoren Mahmut Cerkez¹,Turkgenc Burcu²,Teralı Kerem³^ORCID,Rodoplu Orhan⁴,Verstraeten Aline⁵,Van Laer Lut⁵,Mocan Gamze⁶,Loeys Bart⁵,Tetik Omer⁷,Temel Sehime G.⁸⁹¹⁰^ORCID

Affiliation:

1. Department of Medical Biology, Faculty of Medicine, Near East University, Nicosia, Cyprus

2. Acibadem Genetic Diagnostic Center, Istanbul, Turkey

3. Department of Medical Biochemistry, Faculty of Medicine, Near East University, Nicosia, Cyprus

4. Department of Cardiovascular Surgery, Private Yalova Hospital, Yalova, Turkey

5. Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium

6. Department of Pathology, Faculty of Medicine, Near East University, Nicosia, Cyprus

7. Department of Cardiovascular Surgery, Celal Bayar University, Manisa, Turkey

8. Department of Histology and Embryology, Uludağ University, Bursa, Turkey

9. Department of Medical Genetics, Uludağ University, Bursa, Turkey

10. Department of Histology & Embryology, Faculty of Medicine, Near East University, Nicosia, Cyprus

Funder

Near East University

Publisher

Informa UK Limited

Subject

Cell Biology,Molecular Biology,Orthopedics and Sports Medicine,Biochemistry,Rheumatology

Link

https://www.tandfonline.com/doi/pdf/10.1080/03008207.2018.1472589

Reference42 articles.

1. Medical Management of Marfan Syndrome

2. Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome

3. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

4. Biogenesis and function of fibrillin assemblies

5. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome

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