Novel therapeutic perspectives in Noonan syndrome and RASopathies
Novel therapeutic perspectives in Noonan syndrome and RASopathies
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Scope and Contents
Contents
Noonan syndrome belongs to the family of RASopathies, a group of multiple congenital anomaly disorders caused by pathogenic variants in genes encoding components or regulators of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway. Collectively, all these pathogenic variants lead to increased RAS/MAPK activation. The better understan...
Alternative Titles
Full title
Novel therapeutic perspectives in Noonan syndrome and RASopathies
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10951041
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10951041
Other Identifiers
ISSN
1432-1076,0340-6199
E-ISSN
1432-1076
DOI
10.1007/s00431-023-05263-y
