Molecular defects in the chondrodysplasias
- 3 May 1996
- journal article
- review article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 63 (1) , 106-110
- https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<106::aid-ajmg20>3.0.co;2-r
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasiaNature Genetics, 1995
- Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein geneNature Genetics, 1995
- Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasiaNature Genetics, 1995
- A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathyCell, 1995
- Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related geneNature, 1994
- The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mappingCell, 1994
- Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4pHuman Molecular Genetics, 1994
- A gene for hereditary multiple exostoses maps to chromosome 19pHuman Molecular Genetics, 1994
- A gene for achondroplasia–hypochondroplasia maps to chromosome 4pNature Genetics, 1994
- Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata ? a complementation studyHuman Genetics, 1992