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Licensed Unlicensed Requires Authentication Published by De Gruyter December 7, 2017

Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case presentation

  • Ewa Wypasek EMAIL logo , Daniel P. Potaczek , Marcin Hydzik , Renata Stapor , Marta Raczkowska-Muraszko , Janneke Weiss , Alessandra Maugeri and Anetta Undas

Corresponding author: Dr. Ewa Wypasek, Institute of Cardiology, Jagiellonian University School of Medicine, 80 Pradnicka St., 31-202 Cracow, Poland, Phone: +48-12-6143145, Fax: +48-12-6143145
aEwa Wypasek, Daniel P. Potaczek and Marcin Hydzik contributed equally to this work.


We would like to thank Dr. Paul J. Coucke, Dr. Julie De Backer and Prof. Anne M. De Paepe for critical reading of the manuscript.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: This study was funded by Jagiellonian University Medical College (Grant K/ZDS/00580).

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


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Received: 2017-1-17
Accepted: 2017-10-10
Published Online: 2017-12-7
Published in Print: 2018-3-28

©2018 Walter de Gruyter GmbH, Berlin/Boston

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