Article
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Human mutation - 1 Jan 2016
Barat-Houari Mouna, Sarrabay Guillaume, Gatinois Vincent, Fabre Aurélie, Dumont Bruno, Genevieve David, Touitou Isabelle
Abstract excerpt
Mutations in the COL2A1 gene cause a spectrum of rare autosomal-dominant conditions characterized by skeletal dysplasia, short stature, and sensorial defects. An early diagnosis is critical to providing relevant patient care and follow-up, and genetic counseling to affected families. There are no recent exhaustive descriptions of the causal mutations in the literature. Here, we provide a review of COL2A1...
Topics
- Collagen Type II
- Databases, Genetic
- Genes, Dominant
- Genetic Association Studies
- Genotype
- Humans
- Mutation
- Osteochondrodysplasias
- Phenotype