Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

  title={Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.},
  author={Guilherme Lopes Yamamoto and Meire Aguena and Monika Gos and Christina Y Hung and Jacek Pilch and Somayyeh Fahiminiya and Anna Abramowicz and Ingrid Cristian and Michelle Buscarilli and Michel Satya Naslavsky and Alexsandra C. Malaquias and Mayana Zatz and Olaf A F Bodamer and Jacek Majewski and Alexander A. L. Jorge and Alexandre da Costa Pereira and Chong A E Kim and Maria Rita Santos Passos-Bueno and D{\'e}bora Bertola},
  journal={Journal of medical genetics},
  volume={52 6},
BACKGROUND Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. Heterozygous, pathogenic variants in 11 known genes account for approximately 80% of cases. The identification of novel genes associated with Noonan syndrome has become increasingly challenging, since they might be responsible for very small fractions of the cases. METHODS A cohort of 50 Brazilian probands negative for pathogenic… CONTINUE READING
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