Article
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.
Human mutation - 1 Jan 2022
Nagai Koki, Niihori Tetsuya, Okamoto Nobuhiko, Kondo Akane, Suga Kenichi, Ohhira Tomoko, Hayabuchi Yasunobu, Homma Yukako, Nakagawa Ryuji, Ifuku Toshinobu, Abe Taiki, Mizuguchi Takeshi, Matsumoto Naomichi, Aoki Yoko
Abstract excerpt
Costello syndrome (CS) is an autosomal-dominant disorder characterized by distinctive facial features, hypertrophic cardiomyopathy, skeletal abnormalities, intellectual disability, and predisposition to cancers. Germline variants in HRAS have been identified in patients with CS. Intragenic HRAS duplications have been reported in three patients with a milder phenotype of CS. In this study, we identified two known...
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