Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel <i>L1CAM</i> variant.

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第一作者： Timothy D,Gauntner

第一单位： Department of Medicine University of Minnesota Minneapolis MN USA.

作者： Timothy D,Gauntner ^[1] ; Manasa,Karumuri ^[2] ; Miguel A,Guzman ^[3] ; Sara E,Starnes ^[4] ; Sherri,Besmer ^[3] ; Hailey,Pinz ^[4] ; Stephen R,Braddock ^[3] ; Teresa L,Andreone ^[4]

作者单位： Department of Medicine University of Minnesota Minneapolis MN USA. ^[1] Department of Pediatrics Saint Louis University School of Medicine St. Louis MO USA. ^[2] Saint Louis University School of Medicine St. Louis MO USA. ^[3] Division of Pediatric Pathology Department of Pathology Saint Louis University School of Medicine St. Louis MO USA. ^[4] Division of Pediatric Genetics, Department of Pediatrics Saint Louis University School of Medicine St. Louis MO USA. ^[5] Division of Pediatric Critical Care, Department of Pediatrics Saint Louis University School of Medicine St. Louis MO USA. ^[6]

关键词 genetics neurosurgery paediatrics and adolescent medicine

DOI 10.1002/ccr3.3816

PMID 33768880

发布时间 2024-03-31

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Clinical case reports

2021年9卷3期

1518-1523页

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Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel <i>L1CAM</i> variant.

Clinical case reports

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Clinical case reports

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Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel <i>L1CAM</i> variant.

Clinical case reports

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Clinical case reports

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