Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene

Autor: Takano, Takako, Ota, Hideomi, Ohishi, Hajime, Hata, Kenichiro, Furukawa, Rieko, Nakabayashi, Kazuhiko
Zdroj: In European Journal of Medical Genetics November 2021 64(11)
Databáze: ScienceDirect