A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.
作者信息
Takeichi T, Katayama C, Tanaka T, Okuno Y, Murakami N, Kono M, Sugiura K, Aoyama Y, Akiyama M
机构信息
Departments of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.
Departments of Dermatology, Kawasaki General Hospital, Kawasaki Medical School, Okayama, Japan.
出版信息
Br J Dermatol. 2018 Feb;178(2):e111-e113. doi: 10.1111/bjd.15869. Epub 2017 Dec 22.
PMID:29270977
Abstract
摘要
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