Associated Papers
Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report.
Calvache CA et al.
Frontiers in Pediatrics, 2022
A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia.
von Bohlen AE et al.
Molecular Genetics & Genomic Medicine, 2017
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.
Mattos EP et al.
Genetics and Molecular Biology, 2015
25983619 (PubMed )
Supplement: 1415-4757-gmb-38-1-14-suppl03.pdf
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
Matsushita M et al.
American Journal of Medical Genetics. Part A, 2013
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia.
Tonni G et al.
The Journal of Obstetrics and Gynaecology Research, 2013
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
Staffler A et al.
Human Mutation, 2010
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