Article
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.
European journal of human genetics : EJHG - 1 Dec 2018
Boczek Nicole J, Hopp Katharina, Benoit Lacey, Kraft Daniel, Cousin Margot A, Blackburn Patrick R, Madsen Charles D, Oliver Gavin R, Nair Asha A, Na Jie, Bianchi Diana W, Beek Geoffrey, Harris Peter C, Pichurin Pavel, Klee Eric W
Abstract excerpt
Whole exome sequencing (WES) is utilized in diagnostic odyssey cases to identify the underlying genetic cause associated with complex phenotypes. Recent publications suggest that WES reveals the genetic cause in ~25% of these cases and is most successful when applied to children with neurological disease. The residual 75% of cases remain genetically elusive until more information becomes available in the...
Topics
- Aborted Fetus
- Adolescent
- Adult
- Child, Preschool
- Ciliopathies
- Female
- Humans
- Infant
- Male
- Microtubule-Associated Proteins