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A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome

Authors

  • Paula Fernández-Álvarez Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, SpainMedicine Genetics Group, Vall d’Hebron Institut de Recerca, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Marta Codina-Sola Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, SpainMedicine Genetics Group, Vall d’Hebron Institut de Recerca, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Irene Valenzuela Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, SpainMedicine Genetics Group, Vall d’Hebron Institut de Recerca, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Gisela Teixidó-Turá Department of Cardiology, Hospital Universitari Vall d'Hebron, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Anna Cueto-González Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, SpainMedicine Genetics Group, Vall d’Hebron Institut de Recerca, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Ida Paramonov Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, SpainMedicine Genetics Group, Vall d’Hebron Institut de Recerca, Barcelona, Spain PubMed articlesGoogle scholar articles
  • María Antolín Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, SpainMedicine Genetics Group, Vall d’Hebron Institut de Recerca, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Fermina López-Grondona Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, SpainMedicine Genetics Group, Vall d’Hebron Institut de Recerca, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Teresa Vendrell Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, SpainMedicine Genetics Group, Vall d’Hebron Institut de Recerca, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Artur Evangelista Department of Cardiology, Hospital Universitari Vall d'Hebron, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Elena García-Arumí Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, SpainDepartament de Patologia Neuromuscular i Mitocondrial, Biomedical Network Research Centre on Rare Diseases (CIBERER), Vall d’Hebron Institut de Recerca, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Eduardo F Tizzano Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, SpainMedicine Genetics Group, Vall d’Hebron Institut de Recerca, Barcelona, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Eduardo F Tizzano, Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Barcelona, Spain; etizzano{at}vhebron.net
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Citation

Fernández-Álvarez P, Codina-Sola M, Valenzuela I, et al
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome

Publication history

  • Received November 20, 2020
  • Revised March 31, 2021
  • Accepted April 1, 2021
  • First published April 28, 2021.

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