Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.-论文-万方医学网

第一作者： Ludwine,Messiaen

第一单位： Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, 720 20th St S, Birmingham, AL 35294, USA. lmessiaen@genetics.uab.edu

作者： Ludwine,Messiaen ^[1] ; Suxia,Yao ; Hilde,Brems ; Tom,Callens ; Achara,Sathienkijkanchai ; Ellen,Denayer ; Emily,Spencer ; Pamela,Arn ; Dusica,Babovic-Vuksanovic ; Carolyn,Bay ; Gary,Bobele ; Bruce H,Cohen ; Luis,Escobar ; Deborah,Eunpu ; Theresa,Grebe ; Robert,Greenstein ; Rachel,Hachen ; Mira,Irons ; David,Kronn ; Edmond,Lemire ; Kathleen,Leppig ; Cynthia,Lim ; Marie,McDonald ; Vinodh,Narayanan ; Amy,Pearn ; Robert,Pedersen ; Berkley,Powell ; Lawrence R,Shapiro ; David,Skidmore ; David,Tegay ; Heidi,Thiese ; Elaine H,Zackai ; Raymon,Vijzelaar ; Koji,Taniguchi ; Toranoshin,Ayada ; Fuyuki,Okamoto ; Akihiko,Yoshimura ; Annabel,Parret ; Bruce,Korf ; Eric,Legius

作者单位： Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, 720 20th St S, Birmingham, AL 35294, USA. lmessiaen@genetics.uab.edu ^[1]

主题词衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing);青少年(Adolescent);成年人(Adult);咖啡乳斑(Cafe-au-Lait Spots);儿童(Child);儿童, 学龄前(Child, Preschool);横断面研究(Cross-Sectional Studies);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);基因, 神经纤维瘤病1型(Genes, Neurofibromatosis 1);遗传关联研究(Genetic Association Studies);基因检测(Genetic Testing);人类(Humans);婴儿(Infant);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);男(雄)性(Male);膜蛋白质类(Membrane Proteins);中年人(Middle Aged);突变(Mutation);突变, 误义(Mutation, Missense);神经纤维瘤病1型(Neurofibromatosis 1);表型(Phenotype);综合征(Syndrome);青年人(Young Adult)

DOI 10.1001/jama.2009.1663

PMID 19920235

发布时间 2020-12-09

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Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

JAMA

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JAMA

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Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

JAMA

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JAMA

相关期刊

检索历史清除