Reference details

Rosenthal et al.1992Nat. Genet.107-1122Aberrant splicing of neural cell adhesion molecule L1 messenger RNA in a family with X-linked hydrocephalus 1303258

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 18c.2432-19A>Cp.?Branch pointDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 3 c.2432-19A>C p.?Intron 18 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia