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

• मुख्य लेखकों: Carlos A. Calvache (लेखक), Estefanía C. Vásquez (लेखक), Vanessa I. Romero (लेखक), Kazuyoshi Hosomichi (लेखक), Juan C. Pozo (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...