Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

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作者： Karen W,Gripp ^[1] ; Dina J,Zand ; Laurie,Demmer ; Carol E,Anderson ; William B,Dobyns ; Elaine H,Zackai ; Elizabeth,Denenberg ; Kim,Jenny ; Deborah L,Stabley ; Katia,Sol-Church

作者单位： Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware. ^[1]

关键词 Chiari 1 malformation Noonan syndrome with loose anagen hair SHOC2 heterotopia malignancy myelofibrosis rasopathy

主题词畸形, 多发性(Abnormalities, Multiple);成年人(Adult);脑(Brain);儿童, 学龄前(Child, Preschool);致命性结局(Fatal Outcome);女(雌)性(Female);毛发(Hair);人类(Humans);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);突变(Mutation);努南综合征(Noonan Syndrome);表型(Phenotype);原发性骨髓纤维化(Primary Myelofibrosis);青年人(Young Adult)

DOI 10.1002/ajmg.a.36098

PMID 23918763

发布时间 2022-03-10

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American journal of medical genetics. Part A

2013年161A卷10期

2420-30页

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Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

American journal of medical genetics. Part A

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American journal of medical genetics. Part A

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Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

American journal of medical genetics. Part A

相似文献

American journal of medical genetics. Part A

相关期刊

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