Article
Genetic heterogeneity in skeletal dysplasias.
Annals of clinical and laboratory science - 1 Jan 2000
Frias J L
Abstract excerpt
Certain skeletal dysplasias represent excellent examples of genetic heterogeneity. Clinical recognition of their individual characteristics is a fundamental prerequisite for an understanding of their pathogenetic mechanisms and for the identification of their basic molecular defects.
Topics
- Achondroplasia
- Bone Diseases, Developmental
- Diagnosis, Differential
- Dwarfism
- Humans
- Mucopolysaccharidoses
- Mucopolysaccharidosis IV
- Mutation
- Osteochondrodysplasias
- Phenotype