Article
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
Human mutation - 1 Jun 2010
Staffler Alex, Hammel Markus, Wahlbuhl Mandy, Bidlingmaier Christoph, Flemmer Andreas W, Pagel Philipp, Nicolai Thomas, Wegner Michael, Holzinger Andreas
Abstract excerpt
Campomelic dysplasia is a malformation syndrome with multiple symptoms including characteristic shortness and bowing of the long bones (campomelia). CD, often lethal due to airway malformations, is caused by heterozygous mutations in SOX9, an SRY-related gene regulating testis and chondrocyte development including expression of many cartilage genes such as type II collagen. Male to female sex reversal occurs in...
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