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Novel association of neurofibromatosis type 1‐causing mutations in families with neurofibromatosis‐noonan syndrome
Authors:Sara Ekvall  Kerstin Sjörs  Anders Jonzon  Mauno Vihinen  Göran Annerén  Marie‐Louise Bondeson
Affiliation:1. Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden;2. Department of Pediatrics, Central Hospital of V?ster?s, V?ster?s, Sweden;3. Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden;4. Department of Experimental Medical Science, Lund University, Lund, Sweden;5. Correspondence to:;6. Marie‐Louise Bondeson, Department of Immunology, Genetics and Pathology, Uppsala University, Box 815, 751 08, Uppsala, Sweden.;7. E‐mail:
Abstract:
Keywords:NF1  neurofibromatosis type 1  neurofibromatosis‐Noonan syndrome  mutation  RAS‐MAPK pathway  RASopathies
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