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Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

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Authors and Affiliations

  1. Division of Human Genetics, Departments of Pediatrics and Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA, , , , ,

    Jeffrey E. Ming & Maximilian Muenke

  2. Division of Neurology, Departments of Pediatrics and Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA, , , , ,

    Michelle E. Kaupas

  3. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1852, Building 10, 10C103, Bethesda, MD 20892-1852, USA, , , , ,

    Erich Roessler

  4. University of Nijmegen, Nijmegen, The Netherlands, , , , ,

    Han G. Brunner

  5. University of California, San Francisco, California, USA, , , , ,

    Mahin Golabi

  6. Medical College of Virginia, Richmond, Virginia, USA, , , , ,

    Mustafa Tekin

  7. University of Texas Health Science Center, San Antonio, Texas, USA, , , , ,

    Robert F. Stratton

  8. Children's Hospital, Denver, Colorado, USA, , , , ,

    Eva Sujansky

  9. NIAMS, NIH, Bethesda, Maryland, USA, , , , ,

    Sherri J. Bale

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  1. Jeffrey E. Ming
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  2. Michelle E. Kaupas
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  3. Erich Roessler
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  4. Han G. Brunner
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  5. Mahin Golabi
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  6. Mustafa Tekin
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  7. Robert F. Stratton
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  8. Eva Sujansky
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  9. Sherri J. Bale
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  10. Maximilian Muenke
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Ming, J.E., Kaupas, M.E., Roessler, E. et al. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet 111, 464 (2002). https://doi.org/10.1007/s00439-002-0800-9

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  • DOI: https://doi.org/10.1007/s00439-002-0800-9

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