Article
Mutant COMP shapes growth and development of skull and facial structures in mice and humans.
Molecular genetics & genomic medicine - 1 Jul 2020
Burger Alexander, Roosenboom Jasmien, Hossain Mohammad, Weinberg Seth M, Hecht Jacqueline T, Posey Karen L
Abstract excerpt
BACKGROUND: Cartilage oligomeric matrix protein (COMP) is an important extracellular matrix protein primarily functioning in the musculoskeletal tissues and especially endochondral bone growth. Mutations in COMP cause the skeletal dysplasia pseudoachondroplasia (PSACH) that is characterized by short limbs and fingers, joint laxity, and abnormalities but a striking lack of skull and facial abnormalities. METHODS:...
Topics
- Achondroplasia
- Adolescent
- Adult
- Animals
- Cartilage Oligomeric Matrix Protein
- Child
- Child, Preschool
- Facial Bones
- Female
- Humans
- Male