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Mosaic microdeletion of 17p11.2–p12 and duplication of 17q22–q24 in a girl with Smith–Magenis phenotype and peripheral neuropathy |
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| Authors: | Elaine Suk‐Ying Goh Brenda Banwell Dimitri James Stavropoulos Mary Shago Grace Yoon |
| Affiliation: | 1. Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada;2. Division of Neurology, The Hospital for Sick Children, Toronto, Canada;3. Department of Paediatric Laboratory Medicine, Cytogenetics Laboratory, The Hospital for Sick Children, Toronto, Canada |
| Abstract: | |
| Keywords: | Smith– Magenis syndrome peripheral neuropathy developmental delay mosaicism |