Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

@article{Yaoita2015SpectrumOM,
  title={Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations},
  author={Masako Yaoita and Tetsuya Niihori and Seiji Mizuno and Nobuhiko Okamoto and Shion Hayashi and Atsushi Watanabe and Masato Yokozawa and Hiroshi Suzumura and Akihiko Nakahara and Yusuke Nakano and Tatsunori Hokosaki and Ayumi Ohmori and Hirofumi Sawada and Ohsuke Migita and Aya Mima and Pablo Lapunzina and Fernando Santos-Simarro and Sixto Garc{\'i}a-Mi{\~n}a{\'u}r and Tsutomu Ogata and Hiroshi Kawame and Kenji Kurosawa and Hirofumi Ohashi and Shin-ichi Inoue and Yoichi Matsubara and Shigeo Kure and Yoko Aoki},
  journal={Human Genetics},
  year={2015},
  volume={135},
  pages={209-222}
}
RASopathies are autosomal dominant disorders caused by mutations in more than 10 known genes that regulate the RAS/MAPK pathway. Noonan syndrome (NS) is a RASopathy characterized by a distinctive facial appearance, musculoskeletal abnormalities, and congenital heart defects. We have recently identified mutations in RIT1 in patients with NS. To delineate the clinical manifestations in RIT1 mutation-positive patients, we further performed a RIT1 analysis in RASopathy patients and identified 7… CONTINUE READING

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