Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.
Takano T, Ota H, Ohishi H, Hata K, Furukawa R, Nakabayashi K.
Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal.
Ninomiya S, Isomura M, Narahara K, Seino Y, Nakamura Y.