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Last Updated: 10/31/2025
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Found 398 publications
SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: August 25, 2025
Hypertrophy of the lumbosacral nerve roots in Noonan syndrome with multiple lentigines: a case report
Journal: Rinsho shinkeigaku = Clinical neurology
Published: July 24, 2025
Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.
Journal: Molecular autism
Published: April 26, 2025
The history of Naxos disease: pioneering innovation and collaboration with limited means.
Journal: Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese
Published: February 25, 2025
Everolimus therapy in an infant with Noonan syndrome with multiple lentigines.
Journal: Annals of pediatric cardiology
Published: January 24, 2025
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Journal: medRxiv : the preprint server for health sciences
Published: January 13, 2025
Dermal pathology in a Catahoula Leopard dog with Dermasparaxis Ehlers Danlos syndrome caused by a homozygous ADAMTS2 missense variant.
Journal: Topics in companion animal medicine
Published: December 11, 2024
RASopathies. Part I: Genetics and therapeutic considerations.
Journal: Journal of the American Academy of Dermatology
Published: December 03, 2024
Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement.
Journal: Frontiers in cardiovascular medicine
Published: September 03, 2024
RASopathies. Part II: Cutaneous and extracutaneous manifestations.
Journal: Journal of the American Academy of Dermatology
Published: August 17, 2024
Last Updated: 10/31/2025