Associated Papers
X-Linked Hereditary Hydrocephalus Diagnosed in the Fetal Period With Adducted Thumb and a Novel L1CAM Variant: A Case Report.
Horiuchi R et al.
Clinical Case Reports, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG1
A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus.
He T et al.
Molecular Genetics & Genomic Medicine, 2023
X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features.
Ahmed RR et al.
Molecular Syndromology, 2023
L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Accogli A et al.
Annals of Clinical and Translational Neurology, 2021
A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.
Sun Y et al.
Frontiers in Genetics, 2019
Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.
Serikawa T et al.
Congenital Anomalies, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.
Ham JH et al.
The Korean Journal of Internal Medicine, 2009
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S et al.
Human Mutation, 2001
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.
Stevenson RE et al.
American Journal of Medical Genetics, 2000
Analysis of exon 1 mutations in the androgen receptor gene.
Gottlieb B et al.
Human Mutation, 1999
The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.
Michaelis RC et al.
Journal of Medical Genetics, 1998
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
Du YZ et al.
Journal of Medical Genetics, 1998
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