Associated Papers
The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.
Zeng L et al.
Molecular Genetics & Genomic Medicine, 2024
Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome.
Shao Q et al.
Frontiers in Genetics, 2024
Swimming toward solutions: Using fish and frogs as models for understanding RASopathies.
Patterson VL et al.
Birth Defects Research, 2020
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
Niihori T et al.
American Journal of Human Genetics, 2019
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