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

Article

Abstract: Background: Campomelic dysplasia (CD) is a rare disorder that involves the skeletal and genital syst

Palabras claves:

campomelic dysplasia, ECUADOR, high-mobility group box (HMG), self-dimerization domain (DIM), SOX9 gene

Autores:

Carlos A. Calvache, Estefanía C. Vásquez, Hosomichi K., Juan C. Pozo, Vanessa Romero

Fuentes:

scopus