Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe.
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 466-8550, Japan.
出版信息
J Dermatol Sci. 2013 Nov;72(2):197-9. doi: 10.1016/j.jdermsci.2013.06.013. Epub 2013 Jul 10.
Abstract
摘要
Zotero 插件