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
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
Meyer J et al.
Human Molecular Genetics, 1997
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