Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development

Tamura, Mayuko; Isojima, Tsuyoshi; Kasama, Takeshi; Mafune, Ryo; Shimoda, Konomi; Yasudo, Hiroki; Tanaka, Hiroyuki; Takahashi, Chie; Oka, Akira; Kitanaka, Sachiko

期刊名称Human Genome Variation
作者Tamura, Mayuko; Isojima, Tsuyoshi; Kasama, Takeshi; Mafune, Ryo; Shimoda, Konomi; Yasudo, Hiroki; Tanaka, Hiroyuki; Takahashi, Chie; Oka, Akira; Kitanaka, Sachiko
卷第4卷
电子ISSN2054-345X
文件大小702.70KB
发表时间2017-5-11
DOI10.1038/hgv.2017.15

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Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development