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
BackgroundCampomelic dysplasia (CD) is a rare disorder that involves the skeletal and genital systems. This condition has been associated with a diverse set of mutations in the SRY-box transcription factor 9 (SOX9) gene.Case presentationWe herein report a case involving a 4-year-old female patient w...
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| Main Authors: | , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2022-11-01T00:00:00Z.
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