Reference details

Kaepernick et al.1994Clin. Genet.181-18545Clinical aspects of MASA syndrome in a large family, including expressing females 8062435

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 4Exon 9c.1108G>Ap.Gly370ArgMissenseDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 19 c.1108G>A p.Gly370ArgExon 9 Hydrocephalus, ? Family with variable manifestations of clinical symptoms from Hydrocephalus to MASA syndrome