Literature DB >> 31355539

Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation.

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Abstract

Entities:  

Year:  2019        PMID: 31355539     DOI: 10.1002/ajmg.a.40456

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  2 in total

1.  The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.

Authors:  Maria I Kontaridis; Amy E Roberts; Lisa Schill; Lisa Schoyer; Beth Stronach; Gregor Andelfinger; Yoko Aoki; Marni E Axelrad; Annette Bakker; Anton M Bennett; Alberto Broniscer; Pau Castel; Caitlin A Chang; Lukas Cyganek; Tirtha K Das; Jeroen den Hertog; Emilia Galperin; Shruti Garg; Bruce D Gelb; Kristiana Gordon; Tamar Green; Karen W Gripp; Maxim Itkin; Maija Kiuru; Bruce R Korf; Jeff R Livingstone; Alejandro López-Juárez; Pilar L Magoulas; Sahar Mansour; Theresa Milner; Elisabeth Parker; Elizabeth I Pierpont; Kevin Plouffe; Katherine A Rauen; Suma P Shankar; Shane B Smith; David A Stevenson; Marco Tartaglia; Richard Van; Morgan E Wagner; Stephanie M Ware; Martin Zenker
Journal:  Am J Med Genet A       Date:  2022-03-09       Impact factor: 2.578

2.  Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.

Authors:  Ling Sun; Yu-Mei Xie; Shu-Shui Wang; Zhi-Wei Zhang
Journal:  Front Genet       Date:  2022-06-13       Impact factor: 4.772

  2 in total

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