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The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.

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第一作者： Eva,Trevisson

第一单位： Department of Women's and Children's Health, Clinical Genetics Unit, University of Padova, Padova, Italy.;Laboratorio di Genetica Clinica ed Epidemiologica, Istituto di Ricerca Pediatrica, IRP, Padova, Italy.

作者： Eva,Trevisson ^[1] ; Valeria,Morbidoni ^[1] ; Monica,Forzan ^[1] ; Cecilia,Daolio ^[2] ; Valentina,Fumini ^[3] ; Raffaele,Parrozzani ^[4] ; Matteo,Cassina ^[3] ; Edoardo,Midena ^[5] ; Leonardo,Salviati ^[1] ; Maurizio,Clementi ^[1]

作者单位： Department of Women's and Children's Health, Clinical Genetics Unit, University of Padova, Padova, Italy.;Laboratorio di Genetica Clinica ed Epidemiologica, Istituto di Ricerca Pediatrica, IRP, Padova, Italy. ^[1] Pediatric Unit, Carlo Poma Hospital, Mantova, Italy. ^[2] Department of Women's and Children's Health, Clinical Genetics Unit, University of Padova, Padova, Italy. ^[3] Department of Neurosciences, University of Padova, Padova, Italy. ^[4] Department of Neurosciences, University of Padova, Padova, Italy.;IRCCS-Fondazione Bietti, Rome, Italy. ^[5]

关键词 Arg1038Gly Genotype-phenotype correlation NF1 missense mutation neurofibromatosis type 1

医学主题词成年人(Adult);老年人(Aged);儿童(Child);女(雌)性(Female);人类(Humans);婴儿(Infant);男(雄)性(Male);中年人(Middle Aged);突变, 误义(Mutation, Missense);神经纤维瘤病1型(Neurofibromatosis 1);神经纤维素1(Neurofibromin 1);系谱(Pedigree);表型(Phenotype)

DOI 10.1002/mgg3.616

PMID 30843352

发布时间 2021-01-09

基金项目

CPDA140508/14/University of Padova/International

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Molecular genetics & genomic medicine

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The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.

Molecular genetics & genomic medicine

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The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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