Article
Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.
American journal of medical genetics - 3 May 1996
Nerlich A G, Freisinger P, Bonaventure J
Abstract excerpt
We describe two fetuses of the 21st week of gestation that share some macroscopic, radiologic, and histologic findings of thanatophoric dysplasia (TD), but also show distinct differences from the usual subtypes of TD. These differences mainly comprise the lack of facial abnormality, only mild red...
Topics
- Adult
- Arginine
- Bone and Bones
- Cartilage
- Cysteine
- Diagnosis, Differential
- Female
- Fetus
- Genetic Variation
- Gestational Age
- Humans
- Infant, Newborn
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Pregnancy
- Protein-Tyrosine Kinases