![Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development]()
Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex developmentTamura, Mayuko; Isojima, Tsuyoshi; Kasama, Takeshi; Mafune, Ryo; Shimoda, Konomi; Yasudo, Hiroki; Tanaka, Hiroyuki; Takahashi, Chie; Oka, Akira; Kitanaka, Sachiko · Human Genome Variation · 2017