A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.

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作者： Tanja,Frey ^[1] ; Ivan,Ivanovski ^[1] ; Angela,Bahr ^[1] ; Markus,Zweier ^[1] ; Julia,Laube ^[1] ; Isabelle,Luchsinger ^[2] ; Katharina,Steindl ^[1] ; Anita,Rauch ^[1]

作者单位： Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. ^[1] Department of Dermatology, Pediatric Skin Center, University Children's Hospital Zurich, Zurich, Switzerland. ^[2] University Children's Hospital Zurich, Zurich, Switzerland. ^[3] University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, Zurich, Switzerland. ^[4] University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich, Switzerland. ^[5]

关键词 Costello syndrome HRAS HRAS-related RASopathy RASopathy attenuated phenotype loose anagen hair p.Ala59Gly

主题词人类(Humans);Costello综合征(Costello Syndrome);表型(Phenotype);努南综合征(Noonan Syndrome);长势不能(Failure to Thrive);生殖细胞系突变(Germ-Line Mutation);原癌基因蛋白质类p21(ras)(Proto-Oncogene Proteins p21(ras))

DOI 10.1002/ajmg.a.63240

PMID 37194190

发布时间 2023-09-11

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