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A Novel Keratin K5 Gene Mutation in Dowling-Meara Epidermolysis Bullosa Simplex.

✍ Scribed by Nomura, Kazuo; Shimizu, Hiroshi; Meng, Xianmin; Umeki, Kaoru; Tamai, Katsuto; Sawamura, Daisuke; Nagao, Keisuke; Kawakami, Tadashi; Nishikawa, Takeji; Hashimoto, Isao


Book ID
110682137
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
779 KB
Volume
107
Category
Article
ISSN
0022-202X

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The clinical features of the Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) can, in an infant, be indistinguishable from other severe forms of epidermolysis bullosa (EB). Two unrelated infants with no family history of skin disease are described who, within hours of birth, developed