ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation.

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作者： Rebecca R J,Collins ^[1] ; Bradley,Barth ^[2] ; Stephen,Megison ^[1] ; Cory M,Pfeifer ^[2] ; Luke M,Rice ^[1] ; Samar,Harris ^[2] ; Charles F,Timmons ^[1] ; Dinesh,Rakheja ^[2]

作者单位： 1 University of Texas Southwestern Medical Center, Dallas, TX, USA. ^[1] 2 Children's Health, Dallas, TX, USA. ^[2]

关键词 ACTG2 CIPO actin gamma 2 choledochal cyst chronic intestinal pseudoobstruction hypertrophic pyloric stenosis visceral myopathy

主题词肌动蛋白类(Actins);儿童(Child);胆总管囊肿(Choledochal Cyst);人类(Humans);肠假性梗阻(Intestinal Pseudo-Obstruction);肠(Intestines);男(雄)性(Male);突变, 误义(Mutation, Missense);幽门狭窄, 肥厚性(Pyloric Stenosis, Hypertrophic)

DOI 10.1177/1066896918786586

PMID 30019982

发布时间 2020-02-25

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International journal of surgical pathology

2019年27卷1期

77-83页

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ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation.

International journal of surgical pathology

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International journal of surgical pathology

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ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation.

International journal of surgical pathology

相似文献

International journal of surgical pathology

相关期刊

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