Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
- A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy
- An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations
- Expanding the spectrum of CEP55-associated disease to viable phenotypes
- Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome?
- Goldston syndrome
- Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression