Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Kanemura et al2005Congenital Anomalies67-6945First case of L1CAM gene mutation identified in MASA syndrome in Asia 15904436

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Cytopl.Exon 26c.3496C->Tp.Arg1166XNonsenseDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.3496C->T p.Arg1166XExon 26 (Dys)agenesis corpus callosum, Adducted thumbs, Mental retardation, Spastic paraplegia > 10 yrs