Article
A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal.
Clinical genetics - 1 Sept 2000
Ninomiya S, Yokoyama Y, Teraoka M, Mori R, Inoue C, Yamashita S, Tamai H, Funato M, Seino Y
Abstract excerpt
The human SOX9 gene is responsible for the campomelic syndrome (CMPS) and sex reversal. This gene encodes a transcription factor containing a DNA binding domain homologous to the SRY high mobility group (HMG) domain. A novel mutation of SOX9, i.e. a single G deletion in one allele at nt 296 from...
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