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Open Access
Peer-reviewed
Research Article
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice
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Martina M. A. Muggenthaler ,
Contributed equally to this work with: Martina M. A. Muggenthaler, Biswajit Chowdhury, Barry A. Chioza
Affiliation RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom
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Biswajit Chowdhury ,
Contributed equally to this work with: Martina M. A. Muggenthaler, Biswajit Chowdhury, Barry A. Chioza
Affiliation Department of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada
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S. Naimul Hasan,
Affiliation Department of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada
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Harold E. Cross,
Affiliation Department of Ophthalmology, University of Arizona College of Medicine, Tucson, Arizona, United States of America
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Brian Mark,
Affiliation Department of Microbiology, University of Manitoba, Winnipeg, Manitoba, Canada
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Gaurav V. Harlalka,
Affiliation RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom
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Michael A. Patton,
Affiliations RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom, Genetics Research Centre, St George’s University London, London, United Kingdom
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Miho Ishida,
Affiliation Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom
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Elijah R. Behr,
Affiliation Cardiovascular Sciences Research Centre, St George's University of London, London, United Kingdom
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Sanjay Sharma,
Affiliation Cardiovascular Sciences Research Centre, St George's University of London, London, United Kingdom
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Kenneth Zahka,
Affiliation Pediatric Cardiology, Cleveland Clinic, Cleveland, Ohio, United States of America
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Eissa Faqeih,
Affiliation Department of Pediatric Subspecialties, Children’s Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
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Brian Blakley,
Affiliation Department of Otolaryngology, University of Manitoba, Winnipeg, Manitoba, Canada
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Mike Jackson,
Affiliation Department of Small Animal and Materials Imaging Facility, University of Manitoba, Winnipeg, Manitoba, Canada
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Melissa Lees,
Affiliation Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom
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Vernon Dolinsky,
Affiliations Pharmacology & Therapeutics, University of Manitoba, Winnipeg, Manitoba, Canada, Pediatrics & Child Health, University of Manitoba, Winnipeg, Manitoba, Canada
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Leroy Cross,
Affiliation Windows of Hope Genetic Information Centre, Holmes County, Ohio, United States of America
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Philip Stanier,
Affiliation Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom
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Claire Salter,
Affiliation Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom
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Emma L. Baple,
Affiliation RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom
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Fowzan S. Alkuraya,
Affiliations Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
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Andrew H. Crosby ,
* E-mail: a.h.crosby@exeter.ac.uk (AHC); Barbara.Triggs-Raine@umanitoba.ca (BTR)
Affiliation RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom
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Barbara Triggs-Raine ,
* E-mail: a.h.crosby@exeter.ac.uk (AHC); Barbara.Triggs-Raine@umanitoba.ca (BTR)
Affiliations Department of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada, Pediatrics & Child Health, University of Manitoba, Winnipeg, Manitoba, Canada, Manitoba Institute of Child Health, Winnipeg, Manitoba, Canada
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Barry A. Chioza
Contributed equally to this work with: Martina M. A. Muggenthaler, Biswajit Chowdhury, Barry A. Chioza
Affiliation RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom
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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice
- Martina M. A. Muggenthaler,
- Biswajit Chowdhury,
- S. Naimul Hasan,
- Harold E. Cross,
- Brian Mark,
- Gaurav V. Harlalka,
- Michael A. Patton,
- Miho Ishida,
- Elijah R. Behr,
- Sanjay Sharma
- Published: January 12, 2017
- https://doi.org/10.1371/journal.pgen.1006470