The RRAS2 pathogenic variant (c.67G > T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma
ConclusionsOur investigations suggested that the heterozygous missense ofRRAS2 may be a potential causal variant in a rare cause of Noonan syndrome, expanding our understanding of the causally relevant mutations for this disorder.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Lan Zeng,
Jin Wang,
Hui Zhu,
Yu Huang,
Yi Deng,
Ping Wei,
Jing Nie,
Bei Tang,
Ai Chen,
Shuyao Zhu Tags: ORIGINAL ARTICLE Source Type: research