Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6.
作者信息
Sugiura Kazumitsu, Suga Yasushi, Akiyama Masashi
机构信息
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8560, Japan.
Department of Dermatology, Juntendo University Urayasu Hospital, 2-1-1 Tomioka, Urayasu, Chiba 279-0021, Japan.
出版信息
J Dermatol Sci. 2014 Sep;75(3):199-201. doi: 10.1016/j.jdermsci.2014.05.009. Epub 2014 Jun 8.
Abstract
摘要
Zotero 插件