Variant: rs1425166755 

    present in Gene: SOX9;SOX9-AS1
    present in Chromosome: 17
    Position on Chromosome: 72121722
    Alleles of this Variant: G/A;C

rs1425166755 in SOX9;SOX9-AS1 gene and Dysmorphic features PMID 28965976 2018 The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.

PMID 7666392 1995 A clinical and genetic study of campomelic dysplasia.

PMID 15754354 2005 Differentiating campomelic dysplasia from Cumming syndrome.

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 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 25983619 2015 Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

PMID 12161603 2002 The phenotype of survivors of campomelic dysplasia.

PMID 9066880 1997 Acampomelic campomelic dysplasia: further radiographic variations.

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

PMID 10951468 2000 Acampomelic campomelic dysplasia with SOX9 mutation.

PMID 17352389 2007 Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.