Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Griseri et al2009Eur J Hum Genet483-49017(4)Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11) 19300444

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 2Exon 18c.2267delCp.Pro756LeufsX95Deletion; frameshiftDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 1 c.2267delC p.Pro756LeufsX95Exon 18 Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Mental retardation, Spastic paraplegia