About the Authors
- Thierry Vilboux
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Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
- Carla Ciccone
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Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
- Jan K. Blancato
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Affiliation Department of Oncology, Georgetown University Medical Center, Washington, D.C., United States of America
- Gerald F. Cox
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Affiliations Division of Genetics, Department of Pediatrics, Harvard Medical School, Children's Hospital Boston, Boston, Massachusetts, United States of America, Genzyme Corporation, Cambridge, Massachusetts, United States of America
- Charu Deshpande
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Affiliation Department of Genetics, Guy's Hospital, London, United Kingdom
- Wendy J. Introne
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Affiliation Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
- William A. Gahl
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Affiliations Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
- Ann C. M. Smith
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Affiliation Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
- Marjan Huizing
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* E-mail: mhuizing@mail.nih.gov
Affiliation Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
Competing Interests
The authors have declared that no competing interests exist.
Author Contributions
Conceived and designed the experiments: TV ACMS MH. Performed the experiments: TV JKB CC. Analyzed the data: TV CC ACMS MH. Wrote the paper: TV WAG ACMS MH. Recruited patients and performed clinical investigations of the patients: GFC CD WJI WAG ACMS.