Expanding the clinical phenotype of <i>FGFR1</i> internal tandem duplication.

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第一作者： Esko A,Kautto

第一单位： The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.

作者： Esko A,Kautto ^[1] ; Kathleen M,Schieffer ^[1] ; Sean,McGrath ^[2] ; Anthony R,Miller ^[1] ; Maria Elena,Hernandez-Gonzalez ^[1] ; Samantha,Choi ^[1] ; Miriam R,Conces ^[1] ; Esteban,Fernandez-Faith ^[2] ; Mai-Lan,Ho ^[3] ; Kristy,Lee ^[4] ; Anna P,Lillis ^[5] ; Gregory D,Pearson ^[6] ; Stephen G,Kaler ^[7] ; Richard K,Wilson ^[1] ; Elaine R,Mardis ^[2] ; Vincent,Magrini ^[4] ; Jeffrey,Leonard ^[6] ; Catherine E,Cottrell ^[7]

作者单位： The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA. ^[1] Department of Pathology, The Ohio State University, Columbus, Ohio 43210, USA. ^[2] Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA. ^[3] Department of Pediatrics, The Ohio State University, Columbus, Ohio 43210, USA. ^[4] Division of Dermatology, Nationwide Children's Hospital Columbus, Ohio 43205, USA. ^[5] Department of Radiology, Nationwide Children's Hospital Columbus, Ohio 43205, USA. ^[6] Department of Radiology, The Ohio State University, Columbus, Ohio 43210, USA. ^[7] Department of Pediatric Plastic and Reconstructive Surgery, Nationwide Children's Hospital, Columbus, Ohio 43205, USA. ^[8] Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA. ^[9] Department of Neurosurgery, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA. ^[10] Division of Neurosurgery, Nationwide Children's Hospital, Columbus, Ohio 43205, USA. ^[11]

关键词 spinal dysraphism

主题词中枢神经系统肿瘤(Central Nervous System Neoplasms);人类(Humans);婴儿(Infant);神经管缺损(Neural Tube Defects);表型(Phenotype);受体, 成纤维细胞生长因子, 1型(Receptor, Fibroblast Growth Factor, Type 1);信号传导(Signal Transduction)

DOI 10.1101/mcs.a006174

PMID 35149534

发布时间 2022-05-31

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Cold Spring Harbor molecular case studies

2022年8卷2期

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Expanding the clinical phenotype of <i>FGFR1</i> internal tandem duplication.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

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Expanding the clinical phenotype of <i>FGFR1</i> internal tandem duplication.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

相关期刊

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