The RRAS2 pathogenic variant (c.67G & gt;T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma
CONCLUSIONS: 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.PMID:37942564 | DOI:10.1002/mgg3.2313
Source: Molecular Medicine - Category: Molecular Biology Authors: Lan Zeng Jin Wang Hui Zhu Yu Huang Yi Deng Ping Wei Jing Nie Bei Tang Ai Chen Shuyao Zhu Source Type: research