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Open Access
Peer-reviewed
Research Article
Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice
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Lisenka E. L. M. Vissers ,
Contributed equally to this work with: Lisenka E. L. M. Vissers, Timothy C. Cox, A. Murat Maga
Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Timothy C. Cox ,
Contributed equally to this work with: Lisenka E. L. M. Vissers, Timothy C. Cox, A. Murat Maga
Affiliations Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, United States of America, Department of Anatomy and Developmental Biology, Monash University, Clayton, Australia
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A. Murat Maga ,
Contributed equally to this work with: Lisenka E. L. M. Vissers, Timothy C. Cox, A. Murat Maga
Affiliation Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, United States of America
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Kieran M. Short,
Affiliation Department of Biochemistry and Molecular Biology, Monash University, Clayton, Australia
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Fenny Wiradjaja,
Affiliation Department of Biochemistry and Molecular Biology, Monash University, Clayton, Australia
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Irene M. Janssen,
Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Fernanda Jehee,
Affiliation Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil
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Debora Bertola,
Affiliation Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil
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Jia Liu,
Affiliation Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, California, United States of America
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Garima Yagnik,
Affiliation Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, California, United States of America
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Kiyotoshi Sekiguchi,
Affiliation Institute for Protein Research, Osaka University, Osaka, Japan
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Daiji Kiyozumi,
Affiliation Institute for Protein Research, Osaka University, Osaka, Japan
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Hans van Bokhoven,
Affiliations Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Donders Institute for Brain, Imaging, and Cognition, Nijmegen, The Netherlands
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Carlo Marcelis,
Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Michael L. Cunningham,
Affiliation Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, United States of America
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Peter J. Anderson,
Affiliation Australian Craniofacial Unit, Women and Children's Hospital, Adelaide, Australia
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Simeon A. Boyadjiev,
Affiliation Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, California, United States of America
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Maria Rita Passos-Bueno,
Affiliation Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil
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Joris A. Veltman,
Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Ian Smyth,
Affiliations Department of Anatomy and Developmental Biology, Monash University, Clayton, Australia, Department of Biochemistry and Molecular Biology, Monash University, Clayton, Australia
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Michael F. Buckley,
Affiliations Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Department of Haematology and Genetics, South-Eastern Area Laboratory Services, Prince of Wales and Sydney Children's Hospitals, Randwick, Australia
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Tony Roscioli
* E-mail: t.roscioli@antrg.umcn.nl
Affiliations Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Sydney South West Genetic Service, Royal Prince Alfred Hospital, Sydney University, Sydney, Australia
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Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice
- Lisenka E. L. M. Vissers,
- Timothy C. Cox,
- A. Murat Maga,
- Kieran M. Short,
- Fenny Wiradjaja,
- Irene M. Janssen,
- Fernanda Jehee,
- Debora Bertola,
- Jia Liu,
- Garima Yagnik
- Published: September 8, 2011
- https://doi.org/10.1371/journal.pgen.1002278