Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia (original) (raw)

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References

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Acknowledgements

We thank the families described for their cooperation and H. Bellen for critical review of this manuscript. H.T. is a recipient of a postdoctoral fellowship from the Charcot–Marie–Tooth Association. This study was supported in part by the Kleberg Foundation and by grants from the US National Institute of Diabetes, Digestive, and Kidney Diseases (to C.F.B.), from the US National Institute of Eye Diseases (to D.W.S.) and from the US National Institute of Neurological Disorders and Stroke (to J.R.L.).

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Authors and Affiliations

1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, Texas, USA
   Cornelius F. Boerkoel, Hiroshi Takashima, Joy John, Jiong Yan, Pawel Stankiewicz, Lisa Rosenbarker, James R. Lupski & David W. Stockton
2. Department of Medicine, Baylor College of Medicine, Houston, 77030, Texas, USA
   David W. Stockton
3. Department of Ophthalmology, Baylor College of Medicine, Houston, 77030, Texas, USA
   David W. Stockton
4. Department of Pediatrics, Baylor College of Medicine, Houston, 77030, Texas, USA
   James R. Lupski
5. Kleberg Genotyping Center, Baylor College of Medicine, Houston, 77030, Texas, USA
   Joy John & David W. Stockton
6. Department of Néphrologie Pédiatrique, Hôpital d'Enfants, Centre Hospitalier Universitaire de Nancy, Vandoeuvre les Nancy, France
   Jean-Luc André
7. Institute of Mother and Child Health Care of Serbia, Belgrade, Yugoslavia
   Radovan Bogdanovic
8. Department of Unité de Néphrologie Pédiatrique, Centre Hospitalier Universitaire de Besançon, Besançon, France
   Antoine Burguet
9. University of Alberta, Clinical Sciences Building, Edmonton, Alberta, Canada
   Sandra Cockfield
10. Department of Unidade de Genetica, Hospital de Santa Maria, Servico de Pediatria, Lisbon, Portugal
    Isabel Cordeiro
11. Department of KfH Kinderdialyse, Münster, Germany
    Stefan Fründ
12. Department of Universitätsklinikum Essen, Kinderklinik, Essen, Germany
    Friederike Illies & Anja Stein
13. Department of Phoenix Children's Hospital, Section of Pediatric Nephrology, Phoenix, Arizona, USA
    Mark Joseph
14. Helsinki University Central Hospital, Clinical Genetics Unit, Helsinki, Finland
    Ilkka Kaitila
15. Department of Pediatrics, University of Naples, Naples, Italy
    Giuliana Lama
16. Department of Hopital Robert Debré, Service de Néphrologie, 48 Boulevard Sérurier, Paris, France
    Chantal Loirat
17. Department of Alberta Children's Hospital, Calgary, Canada
    D. Ross McLeod
18. Department of Nephrology, Birmingham Children's Hospital, Birmingham, UK
    David V. Milford
19. Division of Medical Genetics, University of Michigan School of Medicine, Ann Arbor, Michigan, USA
    Elizabeth M. Petty
20. Department of Hospital Universitario Virgen de La Arrixaca, Madrid, Spain
    Francisco Rodrigo
21. Department of Hospital Pediátrico de Coimbra, Consulta de Genética, Coimbra, Portugal
    Jorge M. Saraiva
22. Department of Universitätskinderklinik Köln, Cologne, Germany
    Beate Schmidt
23. Department of KRUF Children's Kidney Centre, University Hospital of Wales, Cardiff, UK
    Graham C. Smith
24. Department of Universitäts Kinderklinik, Mainz, Germany
    Jürgen Spranger
25. Institut für Humangenetik und Medizinische Biologie, Martin-Luther-Universität Halle-Wittenberg, Halle, Germany
    Hannelore Thiele
26. Department of Bristol Royal Hospital for Children, Renal Unit, Bristol, UK
    Jane Tizard
27. Division of Clinical and Metabolic Genetics, Departments of Pediatrics and Medical Genetics and Microbiology, Hospital for Sick Children, University of Toronto, Toronto, Canada
    Rosanna Weksberg

Authors

1. Cornelius F. Boerkoel
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2. Hiroshi Takashima
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3. Joy John
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4. Jiong Yan
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5. Pawel Stankiewicz
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6. Lisa Rosenbarker
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7. Jean-Luc André
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8. Radovan Bogdanovic
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9. Antoine Burguet
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10. Sandra Cockfield
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11. Isabel Cordeiro
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12. Stefan Fründ
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13. Friederike Illies
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14. Mark Joseph
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15. Ilkka Kaitila
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16. Giuliana Lama
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17. Chantal Loirat
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18. D. Ross McLeod
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19. David V. Milford
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20. Elizabeth M. Petty
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21. Francisco Rodrigo
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22. Jorge M. Saraiva
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23. Beate Schmidt
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24. Graham C. Smith
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25. Jürgen Spranger
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26. Anja Stein
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27. Hannelore Thiele
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28. Jane Tizard
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29. Rosanna Weksberg
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30. James R. Lupski
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31. David W. Stockton
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Corresponding author

Correspondence toCornelius F. Boerkoel.

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The authors declare no competing financial interests.

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Boerkoel, C., Takashima, H., John, J. et al. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.Nat Genet 30, 215–220 (2002). https://doi.org/10.1038/ng821

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• Received: 15 October 2001
• Accepted: 14 December 2001
• Published: 22 January 2002
• Issue Date: February 2002
• DOI: https://doi.org/10.1038/ng821