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

Smith–Lemli–Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex development and Y-shaped 2–3 toe syndactyly. DHCR7 gene analysis revealed compound heter...

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Detalles Bibliográficos
Autores principales: Tamura, Mayuko, Isojima, Tsuyoshi, Kasama, Takeshi, Mafune, Ryo, Shimoda, Konomi, Yasudo, Hiroki, Tanaka, Hiroyuki, Takahashi, Chie, Oka, Akira, Kitanaka, Sachiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5425407/
https://www.ncbi.nlm.nih.gov/pubmed/28503313
http://dx.doi.org/10.1038/hgv.2017.15

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