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Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1
BACKGROUND: RASopathies are a group of disorders caused by disruptions to the RAS‒MAPK pathway. Despite being in the same pathway, Neurofibromatosis Type 1 (NF1) and Legius syndrome (LS) typically present with phenotypes distinct from Noonan spectrum disorders (NSDs). However, some NF1/LS individual...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196473/ https://www.ncbi.nlm.nih.gov/pubmed/32107864 http://dx.doi.org/10.1002/mgg3.1180 |