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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
Stephen R F Twigg, Robert B. Hufnagel, Kerry A. Miller, Yan Zhou, Simon J. McGowan, John Taylor, Jude Craft, Jenny C. Taylor, Stephanie L. Santoro, Taosheng Huang, Robert J. Hopkin, Angela F. Brady, Jill Clayton-Smith, Carol L. Clericuzio, Dorothy K. Grange, Leopold Groesser, Christian Hafner, Denise Horn, I. Karen Temple, William B. Dobyns
*Corresponding author for this work
- Oxford University
- University of Cincinnati
- Wellcome Centre for Human Genetics
- Genetics Laboratories
- The Churchill Hospital
- National Institute for Health and Care Research (NIHR)
- Northwick Park Hospital
- University of New Mexico
- Washington University School of Medicine
- Universitat Regensburg
- Charite - Universitatsmedizin Berlin
- Princess Anne Hospital
- Seattle Children's Hospital
- University of California (San Francisco)
- Rady Children's Hospital
Research output: Contribution to journal › Article › peer-review