Disease: Dandy Walker syndrome recessive form
- A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort
- Anatomopathology of non-tumoral aqueductal stenosis
- Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum
- Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum
- Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature
- Dandy-Walker variant malformation, spastic paraplegia, and mental retardation in two sibs
- Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
- Neuropathologic findings in a case of OFDS type VI (Varadi syndrome)
- New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies
- Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome?
- Two cases of Dandy-Walker syndrome and chronic polyneuropathy