Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant-Reference-Cited by-同舟云学术

Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant

Published:2021-02-04 Issue:3 Volume:9 Page:1518-1523
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Gauntner Timothy D.¹^ORCID,Karumuri Manasa²³,Guzman Miguel A.⁴³,Starnes Sara E.⁴³,Besmer Sherri⁴³,Pinz Hailey²⁵³,Braddock Stephen R.²⁵³,Andreone Teresa L.²⁶³^ORCID

Affiliation:

1. Department of Medicine University of Minnesota Minneapolis MN USA

2. Department of Pediatrics Saint Louis University School of Medicine St. Louis MO USA

3. Saint Louis University School of Medicine St. Louis MO USA

4. Division of Pediatric Pathology Department of Pathology Saint Louis University School of Medicine St. Louis MO USA

5. Division of Pediatric Genetics, Department of Pediatrics Saint Louis University School of Medicine St. Louis MO USA

6. Division of Pediatric Critical Care, Department of Pediatrics Saint Louis University School of Medicine St. Louis MO USA

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.3816

Reference23 articles.

1. Expanding the phenotypic spectrum of L1CAM-associated disease

2. Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene

3. A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report

4. Hirschsprung disease, associated syndromes and genetics: a review

5. L1cam acts as a modifier gene for members of the endothelin signalling pathway during enteric nervous system development

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1. L1cam alternative shorter transcripts encoding the extracellular domains were overexpressed in the intestine of L1cam knockdown mice;Gene;2023-09

2. X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features;Molecular Syndromology;2023

3. Functional Diversity of Neuronal Cell Adhesion and Recognition Molecule L1CAM through Proteolytic Cleavage;Cells;2022-09-30

4. Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports;Molecular Genetics & Genomic Medicine;2022-07-05