Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
- 1 December 1994
- Vol. 79 (6), 1111-1120
- https://doi.org/10.1016/0092-8674(94)90041-8
Abstract
No abstract availableKeywords
This publication has 38 references indexed in Scilit:
- High-Resolution Cytogenetic Mapping of 342 New Cosmid Markers Including 43 RFLP Markers on Human Chromosome 17 by Fluorescence in Situ HybridizationGenomics, 1993
- Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature reviewAmerican Journal of Medical Genetics, 1993
- Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1Nature Genetics, 1993
- A de novo phenylketonuria mutation: ATG (met) to ATA (ile) in the start codon of the phenylalanine hydroxylase geneHuman Mutation, 1992
- Male development of chromosomally female mice transgenic for SryNature, 1991
- Human globin locus activation region (LAR): role in temporal controlTrends in Genetics, 1990
- A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motifNature, 1990
- Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA librariesHuman Genetics, 1988
- Optimized oligonucleotide probes for DNA fingerprintingElectrophoresis, 1988
- Familial camptomelic dwarfismThe Journal of Pediatrics, 1973