Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Panayi et al2005Prenat Diagn930-93325(10)Prenatal diagnosis in a family with X-linked hydrocephalus 16088863

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 1c.77-?_591delins41p.?DeletionDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.77-?_591delins41 p.?Intron 1 Adducted thumbs, Hydrocephalus Terminated pregnancy at 24 weeks