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

研究成果: Article › 査読

1 被引用数 (Scopus)

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「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」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

Medicine & Life Sciences