Variant: rs104894647 

    present in Gene: SOX9;SOX9-AS1
    present in Chromosome: 17
    Position on Chromosome: 72122804
    Alleles of this Variant: A/G

rs104894647 in SOX9;SOX9-AS1 gene and CAMPOMELIC DYSPLASIA PMID 10951468 2000 Acampomelic campomelic dysplasia with SOX9 mutation.

PMID 11754051 2001 Acampomelic campomelic syndrome.

PMID 19033726 2008 Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.

PMID 19921652 2009 Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.

PMID 20513132 2010 Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.

PMID 11323423 2001 Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.

PMID 24038782 2013 A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.

PMID 7485151 1995 Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

PMID 12783851 2003 Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.

PMID 9452059 1998 Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.

PMID 9002675 1997 Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.

PMID 10446171 1999 Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.