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Open Access
Peer-reviewed
Research Article
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure
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Christina Y. Hung,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliations Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, United States of America, Harvard Medical School, Boston, Massachusetts, United States of America
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Barbara Volkmar,
Roles Investigation
Affiliation Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria
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James D. Baker,
Roles Methodology
Affiliation Department of Biology, University of Miami, Coral Gables, Florida, United States of America
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Johann W. Bauer,
Roles Resources
Affiliation Department of Dermatology, EB House Austria, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, Austria
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Emanuela Gussoni,
Roles Conceptualization, Methodology, Supervision, Writing – review & editing
Affiliations Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, United States of America, Harvard Medical School, Boston, Massachusetts, United States of America
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Stefan Hainzl,
Roles Methodology
Affiliation Department of Dermatology, EB House Austria, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, Austria
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Alfred Klausegger,
Roles Methodology
Affiliation Department of Dermatology, EB House Austria, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, Austria
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Jose Lorenzo,
Roles Methodology
Affiliation John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America
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Ivana Mihalek,
Roles Methodology, Software
Affiliation Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, United States of America
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Olaf Rittinger,
Roles Investigation
Affiliation Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria
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Mustafa Tekin,
Roles Investigation, Methodology, Resources
Affiliation John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America
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Julia E. Dallman,
Roles Conceptualization, Investigation, Methodology, Resources, Supervision, Writing – review & editing
Affiliation Department of Biology, University of Miami, Coral Gables, Florida, United States of America
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Olaf A. Bodamer
Roles Conceptualization, Funding acquisition, Project administration, Resources, Supervision, Writing – original draft, Writing – review & editing
* E-mail: olaf.bodamer@childrens.harvard.edu
Affiliations Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts, United States of America, Harvard Medical School, Boston, Massachusetts, United States of America
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A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure
- Christina Y. Hung,
- Barbara Volkmar,
- James D. Baker,
- Johann W. Bauer,
- Emanuela Gussoni,
- Stefan Hainzl,
- Alfred Klausegger,
- Jose Lorenzo,
- Ivana Mihalek,
- Olaf Rittinger
- Published: December 11, 2017
- https://doi.org/10.1371/journal.pone.0189324