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
The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.
Matsumoto A et al.
Brain & Development, 2018
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
Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.
Massardier J et al.
Fetal Diagnosis and Therapy, 2008
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