Mosaic Deletion of the NF1 Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1


  • Conflicts of interest: nothing to declare.
  • Author contributions: A.L.T.T. and S.M.P. saw the patient in clinic. L.W. and I.S. did the cytogenetic analysis. A.L.T.T. wrote the report with contributions from all authors.

Department of Medical Genetics, Addenbrooke's Hospital, Box 134, Hills Road, Cambridge CB2 0QQ, UK. E-mail: