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Open Access
Peer-reviewed
Research Article
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
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Dov Tiosano ,
Contributed equally to this work with: Dov Tiosano, Hagit N. Baris, Anlu Chen, Marrit M. Hitzert, Markus Schueler, Federico Gulluni
Roles Conceptualization, Formal analysis, Investigation, Methodology, Project administration, Supervision, Writing – review & editing
Affiliations Division of Pediatric Endocrinology, Ruth Children's Hospital, Rambam Medical Center, Haifa, Israel, Rappaport Family Faculty of Medicine, Technion—Israel Institute of Technology, Haifa, Israel
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Hagit N. Baris ,
Contributed equally to this work with: Dov Tiosano, Hagit N. Baris, Anlu Chen, Marrit M. Hitzert, Markus Schueler, Federico Gulluni
Roles Conceptualization, Formal analysis, Investigation, Project administration, Supervision, Writing – review & editing
Affiliations Rappaport Family Faculty of Medicine, Technion—Israel Institute of Technology, Haifa, Israel, The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
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Anlu Chen ,
Contributed equally to this work with: Dov Tiosano, Hagit N. Baris, Anlu Chen, Marrit M. Hitzert, Markus Schueler, Federico Gulluni
Roles Formal analysis, Funding acquisition, Investigation, Writing – original draft, Writing – review & editing
Affiliation Department of Biochemistry, Case Western Reserve University, Cleveland, Ohio, United States of America
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Marrit M. Hitzert ,
Contributed equally to this work with: Dov Tiosano, Hagit N. Baris, Anlu Chen, Marrit M. Hitzert, Markus Schueler, Federico Gulluni
Roles Formal analysis, Investigation, Writing – review & editing
Affiliation Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
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Markus Schueler ,
Contributed equally to this work with: Dov Tiosano, Hagit N. Baris, Anlu Chen, Marrit M. Hitzert, Markus Schueler, Federico Gulluni
Roles Conceptualization, Formal analysis, Investigation, Writing – review & editing
Affiliation Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany
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Federico Gulluni ,
Contributed equally to this work with: Dov Tiosano, Hagit N. Baris, Anlu Chen, Marrit M. Hitzert, Markus Schueler, Federico Gulluni
Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Visualization, Writing – review & editing
Affiliation Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Turin, Torino, Italy
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Antje Wiesener,
Roles Investigation
Affiliation Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany
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Antonio Bergua,
Roles Investigation
Affiliation Department of Ophthalmology, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany
⨯ - Adi Mory,
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Brett Copeland,
Roles Resources
Affiliation Laboratory of Pediatric Brain Diseases, Rockefeller University, New York, New York, United States of America
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Joseph G. Gleeson,
Roles Resources
Affiliations Laboratory of Pediatric Brain Diseases, Rockefeller University, New York, New York, United States of America, Department of Neurosciences, University of California, San Diego, La Jolla, California, United States of America
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Patrick Rump,
Roles Investigation
Affiliation Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
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Hester van Meer,
Roles Investigation
Affiliation Department of Pediatrics, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands
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Deborah A. Sival,
Roles Investigation
Affiliation Department of Pediatrics, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands
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Volker Haucke,
Roles Conceptualization, Resources
Affiliation Leibniz-Institut für Molekulare Pharmakologie, Berlin Faculty of Biology, Chemistry, and Pharmacy, Freie Universität Berlin, Berlin, Germany
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Josh Kriwinsky,
Roles Investigation
Affiliation Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, United States of America
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Karl X. Knaup,
Roles Investigation
Affiliation Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany
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André Reis,
Roles Investigation
Affiliation Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany
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Nadine N. Hauer,
Roles Investigation
Affiliation Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany
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Emilio Hirsch,
Roles Conceptualization, Formal analysis, Methodology, Project administration, Supervision, Visualization, Writing – review & editing
Affiliation Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Turin, Torino, Italy
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Ronald Roepman,
Roles Conceptualization, Formal analysis, Project administration, Supervision, Writing – review & editing
Affiliation Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
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Rolph Pfundt,
Roles Conceptualization, Project administration, Supervision, Writing – review & editing
Affiliation Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
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Christian T. Thiel ,
Roles Conceptualization, Project administration, Supervision, Writing – review & editing
¶‡ CTT, MSW, MGA and DAB also contributed equally to this work.
Affiliation Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany
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Michael S. Wiesener ,
Roles Conceptualization, Formal analysis, Funding acquisition, Project administration, Supervision, Writing – review & editing
¶‡ CTT, MSW, MGA and DAB also contributed equally to this work.
Affiliation Department of Nephrology and Hypertension, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany
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Mariam G. Aslanyan ,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Project administration, Supervision, Writing – review & editing
¶‡ CTT, MSW, MGA and DAB also contributed equally to this work.
Affiliation Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
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David A. Buchner
Roles Conceptualization, Data curation, Funding acquisition, Project administration, Supervision, Writing – original draft, Writing – review & editing
* E-mail: david.buchner@case.edu
¶‡ CTT, MSW, MGA and DAB also contributed equally to this work.
Affiliations Department of Biochemistry, Case Western Reserve University, Cleveland, Ohio, United States of America, Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio, United States of America, Research Institute for Children’s Health, Case Western Reserve University, Cleveland, Ohio, United States of America
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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
- Dov Tiosano,
- Hagit N. Baris,
- Anlu Chen,
- Marrit M. Hitzert,
- Markus Schueler,
- Federico Gulluni,
- Antje Wiesener,
- Antonio Bergua,
- Adi Mory,
- Brett Copeland
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- Published: April 29, 2019
- https://doi.org/10.1371/journal.pgen.1008088