Open AccessNovel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development
Author(s) -
Masahiko Tamura,
Tsuyoshi Isojima,
Takeshi Kasama,
Ryo Mafune,
Konomi Shimoda,
Hiroki Yasudo,
Hiroyuki Tanaka,
Chie Takahashi,
Akira Oka,
Susumu Kitanaka
Publication year - 2017
Publication title -
human genome variation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.796
H-Index - 14
ISSN - 2054-345X
DOI - 10.1038/hgv.2017.15
Subject(s) - smith–lemli–opitz syndrome , syndactyly , compound heterozygosity , mutation , genetics , biology , gene , reductase , medicine , 7 dehydrocholesterol reductase , enzyme , biochemistry