Article
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.
American journal of medical genetics. Part A - 1 Feb 2018
Kakar Naseebullah, Horn Denise, Decker Eva, Sowada Nadine, Kubisch Christian, Ahmad Jamil, Borck Guntram, Bergmann Carsten
Abstract excerpt
Ciliopathies are disorders of the primary cilium that can affect almost all organs and that are characterized by pleiotropy and extensive intra- and interfamilial phenotypic variability. Accordingly, mutations in the same gene can cause different ciliopathy phenotypes of varying severity. WDR60 e...
Topics
- Adolescent
- Adult
- Female
- Humans
- Male
- Middle Aged
- Young Adult
- Adaptor Proteins, Signal Transducing
- Cilia
- Ciliopathies
- Ellis-Van Creveld Syndrome
- Exome
- Homozygote
- Mutation
- Pedigree