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A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling–Meara

✍ Scribed by XL Li; SX Xiao; ZH Peng; Y Liu; M Pan; SN Zhou


Book ID
111094953
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
139 KB
Volume
21
Category
Article
ISSN
0926-9959

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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