|
|||||
|
|
Snyder–Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype |
|
| Authors: | Angela Peron Luigina Spaccini Joy Norris Stefania M. Bova Angelo Selicorni Giovanna Weber Tim Wood Charles E. Schwartz Massimo Mastrangelo |
| Affiliation: | 1. Clinical Genetics Service, V. Buzzi Children's Hospital, , ICP, Milan, Italy;2. JC Self Research Institute, Greenwood Genetic Center, , Greenwood, South Carolina;3. Pediatric Neurology Unit, V. Buzzi Children's Hospital, , ICP, Milan, Italy;4. Pediatric Clinical Genetics Unit, Fondazione MBBM, , Monza, Italy;5. Pediatrics Clinic, Vita‐Salute San Raffaele University, , Milan, Italy |
| Abstract: | |
| Keywords: | Snyder– Robinson syndrome X‐linked mental retardation SMS gene spermine synthase |