Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference24 articles.
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2. The cell adhesion molecule l1 is required for chain migration of neural crest cells in the developing mouse gut;Anderson;Gastroenterology,2006
3. Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression;De Angelis;Hum Mol Genet,2002
4. Transanal endorectal pull-through for Hirschsprung´s disease;De la Torre-Mondragón;J Pediatr Surg,1998
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1. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;Fluids and Barriers of the CNS;2024-03-04
2. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;2023-12-04
3. L1cam alternative shorter transcripts encoding the extracellular domains were overexpressed in the intestine of L1cam knockdown mice;Gene;2023-09
4. X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features;Molecular Syndromology;2023
5. Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant;Clinical Case Reports;2021-02-04
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