|
rs104894647
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
|
24038782 |
2013 |
|
rs104894647
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
|
20513132 |
2010 |
|
rs104894647
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.
|
19921652 |
2009 |
|
rs104894647
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.
|
19033726 |
2008 |
|
rs104894647
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
|
12783851 |
2003 |
|
rs104894647
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
|
11323423 |
2001 |
|
rs104894647
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Acampomelic campomelic syndrome.
|
11754051 |
2001 |
|
rs104894647
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Acampomelic campomelic dysplasia with SOX9 mutation.
|
10951468 |
2000 |
|
rs104894647
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.
|
10446171 |
1999 |
|
rs104894647
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.
|
9452059 |
1998 |
|
rs104894647
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
|
9002675 |
1997 |
|
rs104894647
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.
|
7485151 |
1995 |