Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

Abstract 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 in...

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Bibliographic Details
Main Authors: Leora Witkowski, Mitchell W. Dillon, Elissa Murphy, Matthew SLebo, Heather Mason‐Suares
Format: Article
Language:English
Published: Wiley 2020-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Legius syndrome
Neurofibromatosis type 1
Neurofibromatosis‐Noonan syndrome (NFNS)
NF1
Noonan syndrome (NS)
Noonan syndrome with multiple lentigines (NSML)
Online Access:https://doi.org/10.1002/mgg3.1180

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