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A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype |
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| Authors: | Jonathan J. Edwards Simone Martinelli Luca Pannone Ivan Fai‐Man Lo Lisong Shi Lisa Edelmann Marco Tartaglia Ho‐Ming Luk Bruce D. Gelb |
| Affiliation: | 1. Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York;2. Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York;3. Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy;4. Department of Health, Clinical Genetic Service, Hong Kong, SAR;5. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York |
| Abstract: | |
| Keywords: | double mutation LEOPARD Noonan PTPN11 |