A case of adult-onset localized recessive dystrophic epidermolysis bullosa, harboring the novel COL7A1 mutation p.G2754E and the previously reported mutation p.R1763.
作者信息
Akasaka Eijiro, Rokunohe Daiki, Nakano Hajime, Yamatani Shingo, Sawamura Daisuke
机构信息
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Kiku Hifuka Dermatology Clinic, Hachinohe, Japan.
出版信息
J Dermatol. 2024 Mar;51(3):e74-e76. doi: 10.1111/1346-8138.16993. Epub 2023 Oct 18.
PMID:37850631
Abstract
摘要
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