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The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.

Lan ZengJin WangHui ZhuYu HuangYi DengPing WeiJing NieBei TangAi ChenShuyao Zhu
Published in: Molecular genetics & genomic medicine (2023)
Our investigations suggested that the heterozygous missense of RRAS2 may be a potential causal variant in a rare cause of Noonan syndrome, expanding our understanding of the causally relevant mutations for this disorder.
Keyphrases
  • case report
  • early onset