Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results
- 1 January 1999
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
Abstract
No abstract availableKeywords
This publication has 13 references indexed in Scilit:
- Suspected skeletal dysplasias: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome.American Journal of Obstetrics and Gynecology, 1997
- Genomic Organization of the Human Fibroblast Growth Factor Receptor 3 (FGFR3) Gene and Comparative Sequence Analysis with the MouseFgfr3GeneGenomics, 1997
- Japanese Cases of Type 1 Thanatophoric Dysplasia Exclusively Carry a C to T Transition at Nucleotide 742 of the Fibroblast Growth Factor Receptor 3 GeneBiochemical and Biophysical Research Communications, 1996
- Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfismAmerican Journal of Medical Genetics, 1996
- Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)Human Molecular Genetics, 1996
- Stop codon FGFR3 mutations in thanatophoric dwarfism type 1Nature Genetics, 1995
- Fetal biometry of skeletal dysplasias: a multicentric study.Journal of Ultrasound in Medicine, 1994
- Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3.Proceedings of the National Academy of Sciences, 1991
- Thanatophoric dysplasia and cloverleaf skullAmerican Journal of Medical Genetics, 1987
- The birth prevalence rates for the skeletal dysplasias.Journal of Medical Genetics, 1986