Article
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.
American journal of medical genetics. Part A - 1 Mar 2016
Smith Christopher, Lamont Ryan E, Wade Andrew, Bernier Francois P, Parboosingh Jillian S, Innes A Micheil
Abstract excerpt
Ciliopathies are a class of clinically and genetically heterogeneous disorders characterized by deficits of the primary cilium, an important organelle for cellular signaling and development. Here we report on a patient from a consanguineous family presenting with renal cysts, short stature, disti...
Topics
- Adolescent
- Bone and Bones
- Craniosynostoses
- Cytoskeletal Proteins
- Ectodermal Dysplasia
- Ellis-Van Creveld Syndrome
- Hedgehog Proteins
- Homozygote
- Humans
- Intracellular Signaling Peptides and Proteins
- Male
- Mutation
- Phenotype
- Proteins
- Skeleton