Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals

Julie Richer; Joe Davis Velchev; Sharan Goobie; Christie A Boswell-Patterson; Ingrid M B H van de Laar; Judith M A Verhagen; Marja W Wessels; Jolien W Roos-Hesselink; Ilse Luyckx; Hussein Al-Amodi; Michael W A Chu; Anne-Marie Laberge; Bekim Sadikovic; Tugce Balci; Aline Verstraeten; Bart Loeys

doi:10.1136/jmg-2024-110219

Article info

Genotype-phenotype correlations

Original research

Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals

Authors

Julie Richer Department of Medical Genetics, Children's Hospital of Eastern Ontario Regional Genetics Program, Ottawa, Ontario, Canada Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada PubMed articles Google scholar articles
Joe Davis Velchev Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium PubMed articles Google scholar articles
Sharan Goobie Medical Genetics, Pediatrics, IWK Health Centre, Halifax, Ontario, Canada PubMed articles Google scholar articles
Christie A Boswell-Patterson Department of Medical Genetics, Children's Hospital of Eastern Ontario Regional Genetics Program, Ottawa, Ontario, Canada PubMed articles Google scholar articles
Ingrid M B H van de Laar Department of Clinical Genetics, Erasmus MC, Rotterdam, Zuid-Holland, The Netherlands PubMed articles Google scholar articles
Judith M A Verhagen Department of Clinical Genetics, Erasmus MC, Rotterdam, Zuid-Holland, The Netherlands PubMed articles Google scholar articles
Marja W Wessels Department of Clinical Genetics, Erasmus MC, Rotterdam, Zuid-Holland, The Netherlands PubMed articles Google scholar articles
Jolien W Roos-Hesselink Department of Cardiology, Erasmus MC, Rotterdam, Zuid-Holland, The Netherlands PubMed articles Google scholar articles
Ilse Luyckx Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium PubMed articles Google scholar articles
Hussein Al-Amodi Division of Cardiac Surgery, Western University , London , Ontario , Canada PubMed articles Google scholar articles
Michael W A Chu Division of Cardiac Surgery, Western University , London , Ontario , Canada PubMed articles Google scholar articles
Anne-Marie Laberge Medical Genetics, Department of Pediatrics, CHU Ste-Justine, Montreal, Quebec, Canada PubMed articles Google scholar articles
Bekim Sadikovic Department of Pathology and Laboratory Medicine, London Health Sciences Centre , London, Ontario , Canada PubMed articles Google scholar articles
Tugce Balci Department of Pediatrics, Division of Medical Genetics, Western University, London, Ontario , Canada PubMed articles Google scholar articles
Aline Verstraeten Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium PubMed articles Google scholar articles
Bart Loeys Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium PubMed articles Google scholar articles

Correspondence to Dr Julie Richer; juricher{at}cheo.on.ca

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Citation

Richer J, Velchev JD, Goobie S, et al

Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals

Journal of Medical Genetics 2025;62:199-205.

Publication history

Received July 3, 2024
Accepted December 2, 2024
First published January 2, 2025.

Online issue publication

February 26, 2025

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