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A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

Twigg, Stephen R.F. ; Hufnagel, Robert B. ; Miller, Kerry A. ; Zhou, Yan ; McGowan, Simon J. ; Taylor, John ; Craft, Jude ; Taylor, Jenny C. ; Santoro, Stephanie L. ; Huang, Taosheng ; Hopkin, Robert J. ; Brady, Angela F. ; Clayton-Smith, Jill ; Clericuzio, Carol L. ; Grange, Dorothy K. ; Groesser, Leopold ; Hafner, Christian ; Horn, Denise ; Temple, I. Karen ; Dobyns, William B. ; Curry, Cynthia J. ; Jones, Marilyn C. ; Wilkie, Andrew O.M.



Abstract

Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas. Cerebellar medulloblastoma has been described in a single affected individual; in another, biopsy of skin lesions showed features of ...

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