Article
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
American journal of medical genetics - 7 Jul 1998
Wilcox W R, Tavormina P L, Krakow D, Kitoh H, Lachman R S, Wasmuth J J, Thompson L M, Rimoin D L
Abstract excerpt
Various mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have recently been reported in thanatophoric dysplasia (TD). We examined the clinical, radiographic, and histologic findings in 91 cases from the International Skeletal Dysplasia Registry and correlated them with the specif...
Topics
- Chondrocytes
- Craniosynostoses
- Cysteine
- Femur
- Fetus
- Genotype
- Gestational Age
- Growth Plate
- Humans
- Infant, Newborn
- Mutation
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Protein-Tyrosine Kinases
- Radiography
- Receptor, Fibroblast Growth Factor, Type 3
- Receptors, Fibroblast Growth Factor