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...

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Detalles Bibliográficos
Autores principales: Witkowski, Leora, Dillon, Mitchell W., Murphy, Elissa, S Lebo, Matthew, Mason‐Suares, Heather
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
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

Internet

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

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