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

BACKGROUND: Campomelic 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 PRESENTATION: We herein report a case involving a 4-year-old female pati...

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Detalles Bibliográficos
Autores principales: Calvache, Carlos A., Vásquez, Estefanía C., Romero, Vanessa I., Hosomichi, Kazuyoshi, Pozo, Juan C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9716274/
https://www.ncbi.nlm.nih.gov/pubmed/36467484
http://dx.doi.org/10.3389/fped.2022.975947

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9716274/
https://www.ncbi.nlm.nih.gov/pubmed/36467484
http://dx.doi.org/10.3389/fped.2022.975947

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