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University Medical Center Groningen
Department of Genetics -
L1CAM Mutation Database
Introduction
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Mutations
Protein domains
References
Reference details
Author
Year
Journal
Pages
Volume
Title
Weblink
Brewer et al.
1996
Dev Med Child Neurol
359-363
38
X-linked hydrocephalus masquerading as spina bifida and destructive porencephaly in successive generations in one family
8641541
Mutations mentioned in reference
No mutations found.
Patients
Family
# Affected relatives
DNA change
Protein change
Exon/Intron
Clinical features
Remarks
1
4
c.2374delinsGG
p.Asn792GlyfsX26
Exon 18
(Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation, Spastic paraplegia
Death < 1 yr: 4/4