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Genetic analysis of a pedigree with MECP2 duplication syndrome in China.
BMC Med Genomics. 2024 Feb 19;17(1):54. doi: 10.1186/s12920-024-01831-9.
BMC Med Genomics. 2024.
PMID: 38373942
Free PMC article.
The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.
Zeng L, Wang J, Zhu H, Huang Y, Deng Y, Wei P, Nie J, Tang B, Chen A, Zhu S.
Zeng L, et al.
Mol Genet Genomic Med. 2024 Jan;12(1):e2313. doi: 10.1002/mgg3.2313. Epub 2023 Nov 9.
Mol Genet Genomic Med. 2024.
PMID: 37942564
Free PMC article.
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