Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development

Kikumi Ushijima, Yuya Ogawa, Miho Terao, Yumi Asakura, Koji Muroya, Mie Hayashi, Tomohiro Ishii, Tomonobu Hasegawa, Ryohei Sekido, Maki Fukami, Shuji Takada, Satoshi Narumi*

*Corresponding author for this work

    Research output: Contribution to journal › Article › peer-review

    Fingerprint

    Dive into the research topics of 'Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development'. Together they form a unique fingerprint.

    INIS

    Biochemistry, Genetics and Molecular Biology