Article
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
American journal of medical genetics - 3 May 1996
Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R
Abstract excerpt
Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasias of decreasing severity caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene on chromosome 5. In these conditions, sulfate tran...
Topics
- Animals
- Anion Transport Proteins
- Carrier Proteins
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Female
- Genotype
- Humans
- Membrane Transport Proteins
- Mutation
- Osteochondrodysplasias
- Phenotype
- Polymerase Chain Reaction
- Pregnancy
- Prenatal Diagnosis
- Sulfate Transporters