第一单位：
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.;Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
作者：
Eva,Vanbelleghem [1]
;
Tim,Van Damme [2]
;
Aude,Beyens [1]
;
Sofie,Symoens [1]
;
Kathleen,Claes [1]
;
Julie,De Backer [3]
;
Ilse,Meerschaut [4]
;
Floris,Vanommeslaeghe [5]
;
Sigurd E,Delanghe [5]
;
Jenneke,van den Ende [6]
;
Tessi,Beyltjens [6]
;
Eleanor R,Scimone [7]
;
Mark E,Lindsay [8]
;
Lisa A,Schimmenti [9]
;
Alicia M,Hinze [10]
;
Emily,Dunn [11]
;
Natalia,Gomez-Ospina [11]
;
Isabelle,Vandernoot [12]
;
Thomas,Delguste [12]
;
Sandra,Coppens [12]
;
Valérie,Cormier-Daire [13]
;
Marco,Tartaglia [14]
;
Livia,Garavelli [15]
;
Joseph,Shieh [16]
;
Şenol,Demir [17]
;
Esra,Arslan Ateş [18]
;
Martin,Zenker [19]
;
Mersedeh,Rohanizadegan [20]
;
Greysha,Rivera-Cruz [21]
;
Sofia,Douzgou [22]
;
Myhre Syndrome Foundation [7]
;
Angela E,Lin [23]
;
Bert,Callewaert
作者单位：
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.;Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
[1]
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
[2]
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.;Department of Cardiology, Ghent University Hospital, Ghent, Belgium.
[3]
Department of Pediatric Cardiology, University Hospital Brussels, Brussels, Belgium.
[4]
Department of Nephrology, Ghent University Hospital, Ghent, Belgium.
[5]
Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.
[6]
Department of Pediatrics, Genetics Unit, MassGeneral for Children, Boston, MA, USA.
[7]
Cardiovascular Genetics Program, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.;Pediatric Cardiology Division, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
[8]
Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
[9]
Division of Rheumatology, Mayo Clinic, Rochester, MN, USA.
[10]
Department of Pediatrics, Division of Medical Genetic, Stanford University, Stanford, CA, USA.
[11]
ULB Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium.
[12]
Paris Cité University, Centre of Reference for Constitutional Bone Diseases (MOC), Department of Genetics, INSERM UMR 1163, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.
[13]
Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[14]
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
[15]
Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
[16]
Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey.
[17]
Department of Medical Genetics, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
[18]
Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
[19]
Department of Medicine, Division of Translational Medicine & Human Genetics, University of Pennsylvania, Philadelphia, PA, USA.
[20]
Division of Reproductive Endocrinology and Infertility, Stanford University School of Medicine, Stanford, CA, USA.
[21]
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
[22]
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bert.callewaert@ugent.be.;Department of Biomolecular Medicine, Ghent University, Ghent, Belgium. bert.callewaert@ugent.be.
[23]
DOI
10.1038/s41431-024-01664-1
PMID
38997468
发布时间
2025-09-02
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