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Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes.
Hum Mol Genet. 2023 Jan 6;32(2):304-318. doi: 10.1093/hmg/ddac188.
Hum Mol Genet. 2023.
PMID: 35981076
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
Lindsey-Temple S, Edwards M, Rickassel V, Nauth T, Rosenberger G.
Lindsey-Temple S, et al. Among authors: rickassel v.
Eur J Hum Genet. 2022 Sep;30(9):1088-1093. doi: 10.1038/s41431-022-01139-1. Epub 2022 Jun 29.
Eur J Hum Genet. 2022.
PMID: 35764878
Free PMC article.
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